Condição em que os rins não absorvem certas substâncias no corpo. Essas substâncias, como cisteína, frutose, galactose ou glicogênio, são perdidas na urina. Acredita-se que a síndrome de Fanconi seja causada por fatores genéticos e ambientais e pode ser diagnosticada em qualquer idade. Os sintomas da síndrome de Fanconi incluem aumento da produção de urina (que pode causar desidratação), fraqueza e anormalidades ósseas.
Introdução
O que você precisa saber de cara
Condição em que os rins não absorvem certas substâncias no corpo. Essas substâncias, como cisteína, frutose, galactose ou glicogênio, são perdidas na urina. Acredita-se que a síndrome de Fanconi seja causada por fatores genéticos e ambientais e pode ser diagnosticada em qualquer idade. Os sintomas da síndrome de Fanconi incluem aumento da produção de urina (que pode causar desidratação), fraqueza e anormalidades ósseas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 21 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 48 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:12324554, PubMed:20335586, PubMed:26047794, PubMed:8327470). The cotransport has a Na(+):Pi stoichiometry of 3:1 and is electrogenic (By similarity)
Apical cell membraneCell membrane
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.
Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Catalyzes two of the four reactions of the long chain fatty acids peroxisomal beta-oxidation pathway (By similarity). Can also use branched-chain fatty acids such as 2-methyl-2E-butenoyl-CoA as a substrate, which is hydrated into (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA (By similarity). Optimal isomerase for 2,5 double bonds into 3,5 form isomeriz
Peroxisome
Fanconi renotubular syndrome 3
A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant.
Transamidinase that catalyzes the transfer of the amidino group of L-arginine onto the amino moiety of acceptor metabolites such as glycine, beta-alanine, gamma-aminobutyric acid (GABA) and taurine yielding the corresponding guanidine derivatives (PubMed:16820567, PubMed:27233232, PubMed:36543883, PubMed:3800397). Catalyzes the rate-limiting step of creatine biosynthesis, namely the transfer of the amidino group from L-arginine to glycine to generate guanidinoacetate, which is then methylated by
Mitochondrion inner membraneCytoplasm
Cerebral creatine deficiency syndrome 3
An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life.
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1
Mitochondrion inner membraneCytoplasmNucleus
Mitochondrial complex I deficiency, nuclear type 17
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance.
Variantes genéticas (ClinVar)
307 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Fanconi primário renotubular
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Subsequent Neoplasms After Umbilical Cord Blood Transplantation in the Japanese and European Populations.
Subsequent neoplasms (SN) are serious late complications after umbilical cord blood transplantation (UCBT). However, population-based comparisons of the incidence and outcomes of SN between Japan and Europe are lacking. To compare the incidence, types, and outcomes of subsequent neoplasms after unrelated UCBT between Japan and Europe. We conducted a retrospective registry-based study using data from the Japanese Society for Transplantation and Cellular Therapy/Japanese Data Center for Hematopoietic Cell Transplantation and Eurocord/European Society for Blood and Marrow Transplantation. Patients who underwent unrelated UCBT between 1998 and 2018 and later developed SN were included in this study. Patients with Fanconi anemia, Diamond-Blackfan anemia, solid tumors as the primary disease, or those who received combined grafts were excluded. Overall survival (OS) was assessed using the Kaplan-Meier method. Among 16,241 (Japan) and 10,358 (Europe) UCBT recipients, 527 (3.2%) and 232 (2.2%) developed SN. The incidence of donor-derived acute leukemia/myelodysplastic syndrome (AL/MDS) was higher in Japan (58%) than in Europe (13%). Solid tumor types differed, with upper gastrointestinal cancers being more frequently observed in Japan (20% versus 5%), while skin (14% versus 8%), thyroid (14% versus 4%), and soft tissue tumors (9% versus 1%) were more common in Europe. Five-year OS after post-transplant lymphoproliferative disorder was significantly higher in Japan than in Europe (48% versus 23%, P < .001), whereas after solid tumors and AL/MDS, it was comparable between the two groups. Marked regional differences exist in SN type and prognosis after UCBT. The observed variations in donor-derived leukemia and solid tumor types underscore the importance of tailored region-specific surveillance strategies for long-term post-transplant care.
Increased Vascular Age in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation: Results of a Single-Center Descriptive Analysis.
Fanconi anemia (FA) is a bone marrow failure and cancer predisposition syndrome associated with an accelerated aging phenotype. Additionally, patients with FA have a high risk of developing metabolic syndrome. However, there is a lack of data on their subsequent risk of long-term cardiovascular disease. Carotid ultrasound imaging provides structural and functional measurements of the carotid artery and has been used to assess cardiovascular risk in the general population as well as in some patients after hematopoietic cell transplantation (HCT). The primary objective of this descriptive study was to assess the long-term cardiovascular disease risk in patients with FA as measured by carotid ultrasound. Secondary objectives included identifying factors contributing to cardiac risk and vascular aging in this patient population. We performed a cross-sectional single-institution study to examine the vascular health in patients with FA, including carotid artery ultrasound imaging. Patients were 1:1 matched to healthy controls by sex, age, and body mass index (BMI). Clinical data were obtained through the University of Minnesota Bone Marrow Transplant database, which included metabolic laboratory studies and HCT data. Two-sample t tests were used to compare carotid ultrasound variables between FA and control cohorts. Four carotid ultrasound imaging variables were used for analysis: carotid intima media thickness (cIMT), lumen diameter, diameter distensibility, and incremental elastic modulus. Continuous variables, such as blood pressure, age, and BMI, were evaluated using Spearman's correlation coefficient (R), with tests of the null hypothesis that R = 0. Forty-nine patients with FA underwent carotid ultrasound imaging between 2016 and 2019. The median age of the cohort was 13 years (range, 5 to 34 years). In this cohort, biallelic mutations in FANCA (n = 35), FANCC (n = 6), and FANCD2 (n = 3) were the most common gene mutations. Forty-three patients in the cohort underwent 1 allogeneic HCT, and 2 patients underwent 2 HCTs. Of those requiring transplantation, the median time from HCT to carotid ultrasound was 6 years (range, 1 to 22 years). Five patients had a history of acute graft-versus-host disease (GVHD), and 2 patients had a history of chronic GVHD. Analysis of carotid ultrasound imaging demonstrated that patients with FA had a significantly higher median cIMT compared to controls (0.56 mm versus 0.43 mm; P < .01). Additionally, the FA cohort had lower compliance (0.11 mm2. mm Hg-1 vs 0.15 mm2. mm Hg-1; P < .01) and distensibility (median, 12.1% versus 12.8%; P = .01). Bivariate analysis demonstrated that older FA patient age was associated with a significant decrease in vessel elasticity, which was not seen in the control cohort. There was no association between increased BMI and decreased vessel elasticity in either the FA or control cohort. The results of this descriptive study demonstrate increased arterial stiffness, particularly at an early age in patients with FA. As arterial stiffness is associated with an increased risk for cardiac disease in the general population, prospective studies should evaluate this correlation specifically in patients with FA and identify disease-modifying agents such as statins.
[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].
Objective: To analyze the mutation characteristics of myeloproliferative neoplasm (MPN) patients with Fanconi anemia (FA) signaling pathway gene mutation. Methods: MPN patients with FA signaling pathway gene mutations (mutation group) diagnosed in the Second Hospital of Tianjin Medical University from September 2017 to October 2024 were retrospectively included. MPN patients without FA signaling pathway gene mutations (non-mutation group) were included by propensity score matching (1∶6 pairing). The patients were followed up to January 31, 2025. The clinical characteristics of the both groups were compared, and the influencing factors of survival time of MPN patients were analyzed by multivariate Cox regression model. Results: There were 22 patients in the mutation group, 8 males and 14 females, with an age [M (Q1, Q3)] of 65 (30, 81) years, including 6, 10 and 6 patients with polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), respectively; PV patients had the highest proportion of both BRCA2 and FANCD2 mutations (both are 2/6), ET patients had the highest proportion of BRCA2 mutations (3/10), and PMF patients had the highest proportion of FANCD2 mutations (4/6). There were 132 patients in the non-mutation group, 48 males and 84 females, aged 65 (32, 85) years. The proportions of splenomegaly [45.5% (10/22) vs 14.4% (19/132)], secondary myelofibrosis [27.3% (6/22) vs 9.8% (13/132)], secondary myelodysplastic syndrome (MDS) [4.5% (1/22) vs 0], and secondary acute myeloid leukemia (AML) patients [4.5 (1/22) vs 0] in the mutation group were higher than those in the non-mutation group (all P<0.05); There were no statistica differences in age, sex, initial blood routine hemoglobin, hematocrit, white blood cell count, platelet count, chromosome karyotype abnormalities, thrombosis, secondary cancer, and the proportion of deceased patients between the two groups (all P>0.05). The median follow-up time was 4 (2, 9) years. The 10-year overall survival rate of the mutation group was lower than that of the non-mutation group (82.4% vs 96.2%, P=0.037). FA signaling pathway gene mutation (HR=2.646, 95%CI: 0.316-22.178, P=0.017) was the influencing factor of survival time of MPN patients. Conclusions: The common FA signaling pathway gene mutations in MPN patients are BRCA2, FANCD2; FA signaling pathway gene mutation is an influencing factor for survival of MPN patients. 目的： 分析伴范可尼贫血（FA）信号通路基因突变骨髓增殖性肿瘤（MPN）患者突变特征及预后的影响因素。 方法： 回顾性纳入2017年9月至2024年10月于天津医科大学第二医院诊断为伴FA信号通路基因突变的MPN患者（突变组），使用倾向性评分匹配（1∶6配对）纳入不伴FA信号通路基因突变的MPN患者（非突变组），随访至2025年1月31日，比较2组患者的临床特征，采用多因素Cox回归模型分析MPN患者生存时间的影响因素。 结果： 突变组22例，男8例，女14例，年龄［M（Q1，Q3）］为65（30，81）岁，其中真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（PMF）患者分别有6、10和6例；PV患者BRCA2和FANCD2突变比例均最高（均为2/6），ET患者BRCA2突变比例最高（3/10），PMF患者FANCD2突变比例最高（4/6）。非突变组132例，男48例，女84例，年龄65（32，85）岁。突变组脾大［45.5%（10/22）比14.4%（19/132）］、继发骨髓纤维化［27.3%（6/22）比9.8%（13/132）］、继发骨髓增生异常综合征（MDS）［4.5%（1/22）比0］、继发急性髓系白血病（AML）患者［4.5%（1/22）比0］的比例均高于非突变组（均P<0.05）；2组年龄、性别、初诊时血常规血红蛋白、红细胞压积、白细胞计数、血小板计数、染色体核型异常、血栓栓塞、继发第二肿瘤、死亡患者比例等差异均无统计学意义（均P>0.05）。中位随访时间为4（2，9）年，突变组10年总生存率低于非突变组（82.4%比96.2%，P=0.037）。FA信号通路基因突变（HR=2.646，95%CI：0.316~22.178，P=0.017）是MPN患者生存时间的影响因素。 结论： MPN患者常见的FA信号通路基因突变为BRCA2、FANCD2；FA信号通路基因突变是MPN患者生存时间的影响因素。.
The tight bond between Fanconi anemia and aging.
Fanconi anemia (FA) is a rare genetic disorder characterized by genomic instability, bone marrow failure, physical abnormalities, and increased cancer susceptibility. Growing evidence suggests that. FA may represent a progeroid syndrome, displaying features of accelerated aging at the cellular and molecular levels. This review examines the cellular and molecular characteristics of FA in the context of the established hallmarks of aging, supporting the hypothesis that FA constitutes a premature aging disorder. The hallmarks of aging, classified as primary, antagonistic, and integrative, are highly interconnected and mutually influential. FA cells exhibit primary hallmarks such as; genomic instability, telomere attrition, epigenetic alterations, and dysregulated autophagy. Antagonistic hallmarks, including cellular senescence, mitochondrial dysfunction, and altered; nutrient sensing, are also evident. Integrative hallmarks, such as stem cell exhaustion, altered; intercellular communication, chronic inflammation, and dysbiosis, arise as downstream consequences of the accumulated primary and antagonistic damage. The presence of these hallmarks, together with the early onset of clinical manifestations such as bone marrow failure, cancer, and premature menopause, strongly supports the notion that FA involves accelerated aging. Although patients with FA lacks the overt physical features typical of other progeroid syndromes, its clinical, cellular, and molecular abnormalities demonstrate a strong association with age-related decline, making FA a valuable model of premature aging. Despite limited experimental evidence directly demonstrating accelerated aging, this review highlights the molecular mechanisms linking FA and aging and identifies understudied areas that warrant further investigation.
The Pathophysiological Mechanism of Beni-koji Choleste-Help or Puberulic Acid-Induced Kidney Injury.
In March 2024, kidney injury caused by some specific red yeast rice supplements was reported in Japan. By November 2024, 2628 people had visited medical facilities, making it a social problem. Many patients still show decreased estimated glomerular filtration rate. Puberulic acid was reported to be present in Beni-koji Choleste-Help toxic lots. However, the pathophysiology is not yet clarified. Here, we discovered that mitochondrial dysfunction in renal proximal tubular epithelial cells is associated with, and may contribute to, nephrotoxicity. To assess the effects of Beni-koji Choleste-Help toxic lots and puberulic acid, we performed RNA sequencing (RNA-seq), extracellular flux analysis, and other assays across multiple models, including human kidney biopsy specimens, primary human renal proximal tubular epithelial cells (hRPTECs), human renal organoids, and mice. A patient renal biopsy sample showed kidney injury molecule-1 expression in proximal tubules surrounded by activated myofibroblasts, indicating tubular damage and fibrosis. Mice treated with toxic lots and puberulic acid showed kidney injury with some features of Fanconi syndrome. Pathological sections revealed tubular necrosis and fibrosis. RNA-seq analysis of whole kidneys showed that the toxic lot and puberulic acid produced similar RNA patterns, suggesting puberulic acid is a causative agent. Gene ontology (GO) analysis comparing the normal and toxic lot revealed mitochondrial pathways downregulation. Puberulic acid showed toxicity to hRPTECs and tubular organoids. In vitro experiment revealed that it causes mitochondrial damage, especially to the respiratory metabolism, associated with subsequent cell death. Puberulic acid and Beni-koji Choleste-Help toxic lots cause mitochondrial damage and cell death to tubular epithelial cells.
Publicações recentes
[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].
The tight bond between Fanconi anemia and aging.
The Pathophysiological Mechanism of Beni-koji Choleste-Help or Puberulic Acid-Induced Kidney Injury.
One-Year Follow-Up of Red Yeast Rice-Associated Renal Dysfunction: A Report of Two Cases.
Subsequent Neoplasms After Umbilical Cord Blood Transplantation in the Japanese and European Populations.
📚 EuropePMCmostrando 130
[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].
Zhonghua yi xue za zhiThe tight bond between Fanconi anemia and aging.
Frontiers in agingThe Pathophysiological Mechanism of Beni-koji Choleste-Help or Puberulic Acid-Induced Kidney Injury.
Kidney international reportsOne-Year Follow-Up of Red Yeast Rice-Associated Renal Dysfunction: A Report of Two Cases.
CureusSubsequent Neoplasms After Umbilical Cord Blood Transplantation in the Japanese and European Populations.
Transplantation and cellular therapyIncreased Vascular Age in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation: Results of a Single-Center Descriptive Analysis.
Transplantation and cellular therapyBRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
American journal of human geneticsApproach to a Child with Hypophosphatemia.
BiomoleculesDNA polymerase kappa is the primary translesion synthesis polymerase for aldehyde ICLs.
Nucleic acids researchHomozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report.
Cancer reports (Hoboken, N.J.)Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
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International journal of molecular sciencesTenofovir-associated Fanconi syndrome in liver transplant recipients with hepatitis B: A retrospective case series.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsFanconi syndrome following administration of oral supplements containing red yeast rice: several months follow-up of three cases.
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Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)Consenso mexicano de tirosinemia tipo 1.
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CEN case reportsBiallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Clinical geneticsFrom Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective.
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American journal of hematologyIdentifying an AML Prognostic Model Using 10 Marker Genes from Single-Cell Transcriptome and Bulk Transcriptome Analysis.
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Frontiers in geneticsRenal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature.
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Genetics in medicine : official journal of the American College of Medical GeneticsFanconi syndrome with hepatorenal karyomegaly in a young Sphynx cat.
JFMS open reportsElectrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
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Pediatric hematology and oncology[STEM CELL TRANSPLANTATIONS FOR PATIENTS WITH FANCONI ANEMIA: AN ISRAELI TERTIARY CENTER EXPERIENCE].
HarefuahSpectrum of fetal limb anomalies.
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Kidney internationalDual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.
GenesGenomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
NatureLack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.
Cancer medicineProximal tubular renal dysfunction among HIV infected patients on Tenofovir versus Tenofovir sparing regimen in western Kenya.
PloS onePrimary biliary cholangitis presenting with Fanconi syndrome: an important phenotype.
BMJ case reportsRenal Involvement in Primary Sjogren's Syndrome: A Case Series of Three Cases with Various Clinicopathological Presentations.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaCystinosis in Pediatric Renal Transplant Recipients: A Case-Control Study From Kuwait.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationA Case of Aplastic Anemia and Colon Cancer With Underlying Spliceosome Mutation: Is It an Incidental Finding or a Novel Association?
CureusFanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review.
Pediatric neurologyHEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
BloodMultisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis.
Human molecular geneticsSingle-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.
Human molecular geneticsLNK (SH2B3) inhibition expands healthy and Fanconi anemia human hematopoietic stem and progenitor cells.
Blood advancesGrowth Retardation in the Course of Fanconi Syndrome Caused by the 4977-bp Mitochondrial DNA Deletion: A Case Report.
Children (Basel, Switzerland)BCS1L mutations produce Fanconi syndrome with developmental disability.
Journal of human geneticsAnalysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.
BloodPlasma intact fibroblast growth factor 23 level is a useful tool for diagnostic approach of renal hypophosphatemia.
Pediatric nephrology (Berlin, Germany)Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: alternative donor and disease-specific conditioning regimen with unmanipulated grafts.
Hematology (Amsterdam, Netherlands)Renal Disease in Primary Sjögren's Syndrome.
Rheumatology and therapyAcquired Bartter Syndrome in Primary Sjögren Syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia[Renal involvement in Sjögren's syndrome].
Nephrologie & therapeutiqueInhibition of TGFβ1 and TGFβ3 promotes hematopoiesis in Fanconi anemia.
Experimental hematologyFanconi syndrome induced by adefovir dipivoxil: a case report and clinical review.
The Journal of international medical researchCompromised repair of radiation-induced DNA double-strand breaks in Fanconi anemia fibroblasts in G2.
DNA repairClinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
Journal of pediatric hematology/oncologyHaploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide in Fanconi Anemia: Improving Outcomes with Improved Supportive Care in India.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationNovel variants in women with premature ovarian function decline identified via whole-exome sequencing.
Journal of assisted reproduction and geneticsCrystals, crystals everywhere but not a clue till late… Light chain crystalline proximal tubulopathy with concomitant myeloma cast nephropathy.
Indian journal of pathology & microbiologyProximal Tubulopathy With Fibrillary Inclusions: A Rare Manifestation of Lymphoma-Associated Monoclonal Gammopathy of Renal Significance (MGRS).
Kidney medicineFreshly isolated primary human proximal tubule cells as an in vitro model for the detection of renal tubular toxicity.
ToxicologyKidney and vascular function in adult patients with hereditary fructose intolerance.
Molecular genetics and metabolism reportsPrimary Sjӧgren's syndrome with renal Fanconi syndrome: Good responses to treatment with glucocorticoids.
Seminars in arthritis and rheumatismPathologic findings and clinical outcomes in women undergoing risk-reducing surgery to prevent ovarian and fallopian tube carcinoma: A large prospective single institution experience.
Gynecologic oncologyOutcome of hematopoietic stem cell transplantation (HCT) from HLA-matched related donor for Fanconi anemia (FA) in adolescents and adults: a retrospective study by Eastern Mediterranean Blood and Marrow Transplantation Group (EMBMT).
Bone marrow transplantationPredictors of Mortality after Primary Discharge from Hospital in Patients with Esophageal Atresia.
The Journal of pediatricsSuccessful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia.
Nature medicineProximal renal tubular acidosis with and without Fanconi syndrome.
Kidney research and clinical practiceHaploidentical Stem Cell Transplantation in Children with Benign Disorders: Improved Survival and Cost-Effective Care Over 15 Years from a Single Center in India.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionRenal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus.
Indian pediatricsQuantitative anatomy of the primary ossification center of the radial shaft in human fetuses.
Surgical and radiologic anatomy : SRAInteraction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
Kidney internationalReliability of calcium-phosphorus (Ca/P) ratio as a new, accurate and inexpensive tool in the diagnosis of some Ca-P disorders.
Journal of endocrinological investigationHierarchical processing of visual stimuli in nephropathic cystinosis.
Journal of inherited metabolic diseasePeering through zebrafish to understand inherited bone marrow failure syndromes.
HaematologicaDefective DNA repair in hereditary ovarian cancers: Implications for therapy.
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System PharmacistsMicrocephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.
European journal of human genetics : EJHGHeavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update.
Mediterranean journal of hematology and infectious diseasesHomozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
European journal of medical geneticsTransplant results in adults with Fanconi anaemia.
British journal of haematology[GENETIC DISORDERS OF RENAL PHOSPHATE HANDLING].
HarefuahRenal Tubular Acidosis in Patients with Primary Sjögren's Syndrome.
Electrolyte & blood pressure : E & BPBiallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
Genetics in medicine : official journal of the American College of Medical GeneticsGermline genetic variants in men with prostate cancer and one or more additional cancers.
CancerClassical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.
Seminars in hematologyEctopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome.
Arthritis research & therapyA Case of Kidney Involvement in Primary Sjögren's Syndrome.
The American journal of case reportsRenal manifestations of primary mitochondrial disorders.
Biomedical reportsEvolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I).
MitochondrionMolecular Cytogenetic Approach to Characterize Novel and Cryptic Chromosome Abnormalities in Childhood Myeloid Malignances of Fanconi Anemia.
Journal of pediatric hematology/oncologyFanconi Syndrome Associated with Hyponatremia in Two Patients with Legionella Pneumonia.
Internal medicine (Tokyo, Japan)V(D)J recombination process and the Pre-B to immature B-cells transition are altered in Fanca-/- mice.
Scientific reportsNeurodegeneration in accelerated aging.
Danish medical journalRenal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron.
Journal of the American Society of Nephrology : JASNJoint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCFirst molecular-cytogenetic characterization of Fanconi anemia fragile sites in primary lymphocytes of FA-D2 patients in different stages of the disease.
Molecular cytogeneticsBilineal Acute Leukemia Associated With Fanconi Syndrome: The First Case Report.
Iranian journal of pediatricsComparison of the effectiveness and renal safety of tenofovir versus entecavir in patients with chronic hepatitis B.
Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia HospitalariaBraddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
American journal of medical genetics. Part AAbstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
BMC genomicsNext-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma.
Pediatric hematology and oncologyHereditary Predispositions to Myelodysplastic Syndrome.
International journal of molecular sciencesTubulointerstitial nephritis and Fanconi syndrome in a patient with primary Sjögren's syndrome accompanied by antimitochondrial antibodies: A case report and review of the literature.
Modern rheumatologyAndrogen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany.
Pediatric hematology and oncologyImpaired Lysosomal Function Underlies Monoclonal Light Chain-Associated Renal Fanconi Syndrome.
Journal of the American Society of Nephrology : JASNRenal involvement in primary Sjögren syndrome.
Nature reviews. NephrologyA novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
European journal of pediatricsA case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis.
BMC nephrologyLentiviral-Mediated Gene Therapy in Fanconi Anemia-A Mice Reveals Long-Term Engraftment and Continuous Turnover of Corrected HSCs.
Current gene therapyFANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation.
OncotargetCarnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy.
Journal of pediatric endocrinology & metabolism : JPEMDental findings in Brazilian patients with Fanconi syndrome.
International journal of paediatric dentistryRenal involvement in primary Sjögren's syndrome.
Rheumatology (Oxford, England)Hypokalemic paralysis as a primary presentation of Fanconi's syndrome and distal renal tubular acidosis in a patient with primary Sjogren's syndrome.
Neurology IndiaGene therapy for monogenic disorders of the bone marrow.
British journal of haematologyImmune status of patients with inherited bone marrow failure syndromes.
American journal of hematologySideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.
BMJ case reportsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Subsequent Neoplasms After Umbilical Cord Blood Transplantation in the Japanese and European Populations.
- Increased Vascular Age in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation: Results of a Single-Center Descriptive Analysis.
- [Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].
- The tight bond between Fanconi anemia and aging.
- The Pathophysiological Mechanism of Beni-koji Choleste-Help or Puberulic Acid-Induced Kidney Injury.
- One-Year Follow-Up of Red Yeast Rice-Associated Renal Dysfunction: A Report of Two Cases.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3337(Orphanet)
- MONDO:0007600(MONDO)
- GARD:9118(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1179460(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar