O rim esponjoso medular (MSK) é um defeito congênito dos túbulos - pequenos tubos dentro dos rins. Em um rim normal, a urina flui através desses túbulos à medida que é formada. No MSK, pequenos sacos chamados cistos se formam na medula (a parte interna do rim), criando uma aparência esponjosa. Os cistos impedem que a urina flua livremente pelos túbulos. O MSK está presente desde o nascimento, mas os sintomas normalmente não ocorrem até a adolescência ou a idade adulta. Os problemas causados pelo MSK incluem sangue na urina, cálculos renais e infecções do trato urinário. MSK raramente leva a problemas mais sérios, como insuficiência renal total. Não há cura para esta condição, por isso o tratamento visa remover cálculos renais e tratar infecções do trato urinário com antibióticos.
Introdução
O que você precisa saber de cara
O rim esponjoso medular (MSK) é um defeito congênito dos túbulos - pequenos tubos dentro dos rins. Em um rim normal, a urina flui através desses túbulos à medida que é formada. No MSK, pequenos sacos chamados cistos se formam na medula (a parte interna do rim), criando uma aparência esponjosa. Os cistos impedem que a urina flua livremente pelos túbulos. O MSK está presente desde o nascimento, mas os sintomas normalmente não ocorrem até a adolescência ou a idade adulta. Os problemas causados pelo MSK incluem sangue na urina, cálculos renais e infecções do trato urinário. MSK raramente leva a problemas mais sérios, como insuficiência renal total. Não há cura para esta condição, por isso o tratamento visa remover cálculos renais e tratar infecções do trato urinário com antibióticos.
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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)
Nucleus
Renal cysts and diabetes syndrome
An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.
Variantes genéticas (ClinVar)
534 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 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 — Rim espongiforme medular
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Exome sequencing in patients with medullary sponge kidney.
Medullary sponge kidney (MSK) is characterized by precalyceal dilatation of the renal tubules. This entity is associated with recurrent kidney stone disease (KSD). Although etiopathogenesis is unknown, genetic origin is suspected. The aim of the study was to describe the variants identified in genes associated with urolithiasis and/or cystic kidney disease in MSK using whole exome sequencing (WES) in patients diagnosed with MSK.Moreover, one hypothesis supported by the only available genetic cohort study is that MSK is due to disruptions in kidney organogenesis involving the GDNF, RET or GFRα1 genes. We wanted to test that hypothesis in our population. WES was performed between January 2023 and June 2024 in 42 patients diagnosed with MSK. The pathogenicity was assessed using American College of Medical Genetics guidelinesPositive WES group was defined by one or more 'likely pathogenic' or 'pathogenic' variants in genes associated with monoallelic urolithiasis and/or cystic kidney disease and/or already described in MSK according to the mode of inheritance.We also searched for rare truncating and missense variants in the RET, GDNF and GFRα1 from a variant datastore which contains unsorted and unfiltered WES results from around 8000 french patients. We then checked whether the patients identified had an MSK phenotype. 10 patients were identified as WES-positive, involving 9 genes: IFT140, PRKCSH, PKHD1, SLC34A3, SLC34A1, SLC26A1, UMOD, COL4A3, and MT-TL1. A total of 140 rare variants of RET (n = 107), GDNF (n = 11) and GFR α1 (n = 22) were identified in the variant datastore, none was associated with MSK. MSK was associated with a diverse set of genes related to KSD and/or cystic kidney diseases which underscore the heterogeneity of MSK, both in its presentation and its underlying genetic basis. MSK may represent a macroscopic phenotype with polygenic origins rather than a distinct entity.
Medullary sponge kidney and chronic pain: is there a role for renal denervation.
Medullary sponge kidney (MSK) is a congenital disorder of the distal nephron, characterized by cystic dilatation of the papillary and medullary tubules. It commonly presents with recurrent calcium nephrolithiasis and often, severe, life-altering chronic pain syndromes, often independent of urinary obstruction and of uncertain etiology. Management focuses on stone prevention and symptomatic care, but these measures are frequently inadequate. No studies of management of this pain syndrome in these patients have been performed. There are essentially no studies evaluating renal denervation in MSK specifically, although the technique has been utilized with some benefit in other disorders, underscoring a major therapeutic gap. In this review, we describe patients with MSK and chronic pain syndrome and review the role of renal denervation as a potential therapy. Renal denervation may represent a promising strategy for chronic kidney pain syndrome. It could provide pain relief and improve quality of life in affected patients. The optimal management strategy for chronic pain in MSK has not been elucidated. Renal denervation has recently been utilized and approved for the management of blood pressure. It could be useful for managing chronic kidney pain in this condition as well.
Ultrasound-guided microwave ablation for primary hyperparathyroidism in a pregnancy patient with medullary sponge kidney: a case description and literature analysis.
[PLCE1 mutation-induced end-stage renal disease presenting with massive proteinuria: a family analysis and literature review].
To summarize the clinical and genetic characteristics of end-stage renal disease caused by PLCE1 gene mutations. A retrospective analysis of the clinical and genetic features of three children from a family with PLCE1 gene mutations was conducted, along with a literature review of hereditary kidney disease cases caused by PLCE1 gene mutations. The proband was an 8-year-old male presenting with nephrotic syndrome stage 4 chronic kidney disease. Renal biopsy showed focal segmental glomerulosclerosis. Two years and five months after kidney transplantation, the patient had persistent negative proteinuria and normal renal function. Whole-exome sequencing identified two pathogenic heterozygous variants: c.961C>T and c.3255_3256delinsT, with c.3255_3256delinsT being a novel mutation. Family screening revealed no renal involvement in the parents, but among five siblings, one brother died at age of 4 years from end-stage renal disease. A 7-year-old sister presented with proteinuria and bilateral medullary sponge kidney, with proteinuria resolving after one year of follow-up. A 3-year-old brother died after kidney transplantation due to severe pneumonia. The literature review included 45 patients with hereditary kidney disease caused by PLCE1 gene mutations. The main clinical phenotype was nephrotic syndrome (87%, 39/45), and renal pathology predominantly showed focal segmental glomerulosclerosis (57%, 16/28). No mutation hotspots were identified. Compound heterozygous mutations in the PLCE1 gene can lead to rapid progression of the disease to end-stage renal disease, with favorable outcomes following kidney transplantation. Family screening is crucial for early diagnosis, and medullary sponge kidney may be a novel phenotype associated with these gene mutations. 目的: 总结PLCE1基因突变致终末期肾病的临床和基因变异特征。方法: 回顾性分析一家系3例PLCE1基因突变患儿的临床和遗传学特征，并对PLCE1基因突变致遗传性肾病病例进行文献复习。结果: 先证者8岁男性，表现为肾病综合征、慢性肾脏病4期，肾活检为局灶性节段性肾小球硬化，肾移植术后2年5个月，尿蛋白持续阴性，肾功能正常。全外显子组测序发现2个致病杂合变异c.961C>T和c.3255_3256delinsT，其中c.3255_3256delinsT为新发突变。家系筛查显示父母无肾脏受累，5位同胞中，1位胞兄于4岁时因终末期肾病死亡；7岁胞妹有蛋白尿和双侧髓质海绵肾，随访1年尿蛋白转阴；3岁胞弟肾移植后因重症肺炎死亡。文献复习共纳入45例PLCE1基因突变致遗传性肾病患者，主要临床表型为肾病综合征（87%，39/45），肾脏病理以局灶性节段性肾小球硬化为主（57%，16/28）。未见热点突变位点。结论: PLCE1基因复合杂合突变可导致疾病迅速进展至终末期肾病，肾移植效果良好，家系筛查对早期诊断至关重要，髓质海绵肾可能为该基因突变的新表型。.
A TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.
Medullary sponge kidney (MSK) is a rare congenital renal anomaly characterised by cystic dilatation of the collecting ducts, often asymptomatic but occasionally presenting with hematuria, nephrolithiasis, or urinary tract infections. While familial cases exist, its precise genetic basis remains unclear. The TRIM8 gene encodes an E3 ubiquitin ligase involved in regulating cellular proliferation, immune response, and differentiation. Pathogenic TRIM8 variants have predominantly been linked to neurodevelopmental disorders and steroid-resistant nephrotic syndrome (SRNS), with or without neurological involvement. Here, we report the case of an 11-year-old boy with incidental proteinuria, later diagnosed with MSK based on ultrasonography showing increased medullary echogenicity. He exhibited persistent nephrotic-range proteinuria despite corticosteroid therapy, accompanied by neurodevelopmental delay. Genetic analysis revealed a heterozygous likely pathogenic c.1193dup (p.Gln399Profs11) variant in TRIM8, supporting a diagnosis of neuro-renal syndrome. This is the first reported case to suggest a possible association between a TRIM8 mutation and the development of MSK. The patient's case expands the known renal phenotype associated with TRIM8-related disorders, highlighting that TRIM8 dysfunction may contribute to tubular abnormalities leading to a spongy medullary phenotype. Further studies are needed to investigate the role of TRIM8 and related signalling pathways in congenital tubular anomalies and their place in the genetic aetiology of MSK.
Publicações recentes
Ultrasound-guided microwave ablation for primary hyperparathyroidism in a pregnancy patient with medullary sponge kidney: a case description and literature analysis.
Exome sequencing in patients with medullary sponge kidney.
Medullary sponge kidney and chronic pain: is there a role for renal denervation.
🥇 Meta-análiseA TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.
Medullary sponge kidney: in-depth phenotyping for a better understanding of functional and structural abnormalities.
📚 EuropePMC277 artigos no totalmostrando 88
Ultrasound-guided microwave ablation for primary hyperparathyroidism in a pregnancy patient with medullary sponge kidney: a case description and literature analysis.
Quantitative imaging in medicine and surgeryExome sequencing in patients with medullary sponge kidney.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationMedullary sponge kidney and chronic pain: is there a role for renal denervation.
Current opinion in nephrology and hypertensionA TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.
Nephrology (Carlton, Vic.)Medullary sponge kidney: in-depth phenotyping for a better understanding of functional and structural abnormalities.
Journal of nephrologyWhole exome sequencing reveals a pathogenic homozygous CLDN16 mutation in a 17-year-old patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis: A case report.
MedicineIntegrated radiomics and deep learning model for identifying medullary sponge kidney stones.
Frontiers in medicineAccurate Assessment of Interval Change in Stone Burden Among Patients with Medullary Sponge Kidney: A Volumetric Approach.
Journal of endourology[PLCE1 mutation-induced end-stage renal disease presenting with massive proteinuria: a family analysis and literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsA Rare Diagnosis of Caroli Syndrome in a Young Patient.
Clinical case reportsPorous perspectives: a comprehensive review of medullary sponge kidney.
International urology and nephrologyA narrative review on extracorporeal shock wave lithotripsy, ureterolithotripsy, and percutaneous nephrolithotripsy in patients with anomalous kidneys.
Minerva urology and nephrology[Medullary sponge kidney: a pathology still full of unknowns].
Nephrologie & therapeutiqueRIRS Triumphs in medullary sponge kidney with incomplete ureteral duplication: Report of a rare case.
Asian journal of surgeryPhenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.
NephronRare type of Bellini Duct Carcinoma in a Patient With Cacchi-Ricci Disease: A Case Report and Mini-Review.
Clinical genitourinary cancerCorrigendum to "Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease" [Kidney International Reports Volume 7, Issue 4, April 2022, Pages 916-919].
Kidney international reportsMedullary sponge kidney with IgA nephropathy: a case report and literature review.
BMC nephrologyA case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.
Pediatric nephrology (Berlin, Germany)Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
NephronExploring the relationship of supernumerary recurrent renal calculi formation and tick-borne infections: a case report.
Frontiers in cellular and infection microbiologyThe impact of kidney stone disease on quality of life in high-risk stone formers.
BJU internationalDetailed Nephro-urological Management of a Case of Medullary Sponge Kidney with Distal Renal Tubular Acidosis and Obstructive Uropathy.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaNephrocalcinosis in a Transplanted Kidney: A New Sign of Chronic Tacrolimus Nephrotoxicity.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaSpinal cord stimulation for visceral pain associated with medullary sponge kidney.
Pain managementWeeping sponge kidney: an unusual phenomenon that should be considered in cases of severe renal haemorrhage.
Clinical radiologyDiagnosis and treatment of bilateral adrenal pheochromocytoma with RET gene mutation combined with medullary sponge kidney: A case report.
MedicineUltrasound Patterns and Disease Progression in Medullary Sponge Kidney in Adults.
Ultrasonic imagingRetrograde intrarenal surgery for stones associated with renal anomalies: caliceal diverticulum, horseshoe kidney, medullary sponge kidney, megacalycosis, pelvic kidney, uretero-pelvic junction obstruction.
Current opinion in urologyNon-papillary prone percutaneous nephrolithotomy for renal abnormalities: single-institution experience.
World journal of urologyThe Ductal Plate From the Inside Out: An Illustrated Review of Fibropolycystic Liver Disease.
Seminars in ultrasound, CT, and MRSingle-Cell Gene Expression Analysis in Patients with Medullary Sponge Kidney and a Retrospective Study.
BioMed research internationalAmyloid A amyloidosis on medullary sponge kidney in a 28-year-old male with gout: A case report and literature review.
International journal of rheumatic diseasesProteomics Insights into Medullary Sponge Kidney Disease: Review of the Recent Results of an Italian Research Collaborative Network.
Kidney & blood pressure researchHypokalemic Periodic Paralysis Secondary to Medullary Sponge Kidney Complicated With Renal Tubular Acidosis.
CureusMedullary sponge kidney: unusual finding in kidney transplant recipient.
The ultrasound journalMedullary Sponge Kidney-Associated Distal Renal Tubular Acidosis Diagnosed in Two Sisters with Variable Degree of Presentation.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaX-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey.
Molecular syndromologyA Comprehensive Proteomics Analysis of Urinary Extracellular Vesicles Identifies a Specific Kinase Protein Profile as a Novel Hallmark of Medullary Sponge Kidney Disease.
Kidney international reportsAtypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease.
Kidney international reportsThe presence of simple renal cysts is associated with an increased risk of albuminuria in young adults.
The Korean journal of internal medicineSphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach.
Frontiers in medicinePrimary Hyperaldosteronism and Renal Medullary Nephrocalcinosis: A Controversial Association.
Oman medical journalMarginal parent donors-Process and ethics.
Pediatric transplantationConsiderations for utilizing medullary sponge kidney allografts in pediatric patients.
Pediatric transplantationHypertension in a patient with medullary sponge kidney: A case report.
MedicineVariable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.
Kidney international reportsUltrasound to address medullary sponge kidney: a retrospective study.
BMC nephrologyAmbiguous clear cell carcinoma in medullary sponge kidney: A case report.
Asian journal of urologyAbdominal Pain in a Patient with Asymmetry.
Kidney360[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesProteomic Analysis of Urinary Extracellular Vesicles Reveals a Role for the Complement System in Medullary Sponge Kidney Disease.
International journal of molecular sciencesMedullary Sponge Kidney: Current Perspectives.
International journal of nephrology and renovascular diseaseRe: The Impact of Potassium Citrate Therapy in the Natural Course of Medullary Sponge Kidney with Associated Nephrolithiasis.
The Journal of urologyPhosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH.
Endocrinology, diabetes & metabolism case reportsThe impact of potassium citrate therapy in the natural course of Medullary Sponge Kidney with associated nephrolithiasis.
Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologicaTrends in surgical management of multicystic dysplastic kidney at USA children's hospitals.
Journal of pediatric urologyProteomic Analysis of Urinary Microvesicles and Exosomes in Medullary Sponge Kidney Disease and Autosomal Dominant Polycystic Kidney Disease.
Clinical journal of the American Society of Nephrology : CJASNMagnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations.
Abdominal radiology (New York)Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report.
MedicineHeterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney.
American journal of physiology. Renal physiologyMedullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent.
BMJ case reportsUrinary proteome in inherited nephrolithiasis.
UrolithiasisLiving kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.
UrolithiasisPage kidney as a complication after a shock wave lithotripsy: a case report.
CEN case reportsAssociation of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report.
Journal of medical case reportsEfficacy of Multi-Detector Computed Tomography for the Diagnosis of Medullary Sponge Kidney.
Current urologyChronic pain in medullary sponge kidney: a rare and never described clinical presentation.
Journal of nephrologyThe genetic framework for development of nephrolithiasis.
Asian journal of urologyThe "bouquet of flowers" appearance in medullary sponge kidney.
Abdominal radiology (New York)[Effects of percutaneous nephrolithotomy in the treatment of medullary sponge kidney with calculi].
Zhonghua wai ke za zhi [Chinese journal of surgery]A giant septal diverticulum in a patient with medullary sponge kidney.
European heart journal. Cardiovascular ImagingRecurrent renal calculi in coexistence of horseshoe kidney and medullary sponge kidney.
Urology annalsBreaking the ice: urine proteomics of medullary sponge kidney disease.
Kidney internationalOutcomes of living kidney donors with medullary sponge kidney.
Clinical kidney journalProteomic-based research strategy identified laminin subunit alpha 2 as a potential urinary-specific biomarker for the medullary sponge kidney disease.
Kidney internationalNew non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers.
UrolithiasisCharacteristics of renal papillae in kidney stone formers.
Minerva urologica e nefrologica = The Italian journal of urology and nephrologySorting the Alphabet Soup of Renal Pathology: A Review.
Current problems in diagnostic radiologySafety and efficacy of minimally invasive percutaneous nephrolithotomy in the treatment of patients with medullary sponge kidney.
Urolithiasis[Nephrocalcinosis in children].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaRole of Osteogenesis in the Formation of Randall's Plaques.
Anatomical record (Hoboken, N.J. : 2007)Re: Biopsy Proven Medullary Sponge Kidney: Clinical Findings, Histopathology, and Role of Osteogenesis in Stone and Plaque Formation.
The Journal of urologyThe Clinical Efficacy and Safety of Ureteroscopic Laser Papillotomy to Treat Intraductal Papillary Calculi Associated With Medullary Sponge Kidney.
UrologyNephrocalcinosis in Calcium Stone Formers Who Do Not have Systemic Disease.
The Journal of urologySpontaneous calcification process in primary renal cells from a medullary sponge kidney patient harbouring a GDNF mutation.
Journal of cellular and molecular medicineBiopsy proven medullary sponge kidney: clinical findings, histopathology, and role of osteogenesis in stone and plaque formation.
Anatomical record (Hoboken, N.J. : 2007)Medullary sponge kidney diagnosed by unenhanced magnetic resonance imaging.
Iranian journal of kidney diseasesAssociações
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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.
- Exome sequencing in patients with medullary sponge kidney.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association· 2026· PMID 41790480mais citado
- Medullary sponge kidney and chronic pain: is there a role for renal denervation.
- Ultrasound-guided microwave ablation for primary hyperparathyroidism in a pregnancy patient with medullary sponge kidney: a case description and literature analysis.
- [PLCE1 mutation-induced end-stage renal disease presenting with massive proteinuria: a family analysis and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics· 2025· PMID 40462432mais citado
- A TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.
- Medullary sponge kidney: in-depth phenotyping for a better understanding of functional and structural abnormalities.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1309(Orphanet)
- MONDO:0015268(MONDO)
- GARD:232(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q119280(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
