É uma doença renal em que os rins têm dificuldade para liberar a quantidade certa de ácido na parte final dos túbulos renais. Isso causa uma acidez excessiva no sangue (acidose metabólica), com níveis altos de cloro (hiperclorêmica). A acidose tubular renal distal primária geralmente está associada a baixos níveis de potássio no sangue (hipocalemia). Por outro lado, a forma adquirida pode estar associada a níveis baixos (hipocalemia), altos (hipercalemia) ou normais de potássio no sangue (normocalemia).
Introdução
O que você precisa saber de cara
É uma doença renal em que os rins têm dificuldade para liberar a quantidade certa de ácido na parte final dos túbulos renais. Isso causa uma acidez excessiva no sangue (acidose metabólica), com níveis altos de cloro (hiperclorêmica). A acidose tubular renal distal primária geralmente está associada a baixos níveis de potássio no sangue (hipocalemia). Por outro lado, a forma adquirida pode estar associada a níveis baixos (hipocalemia), altos (hipercalemia) ou normais de potássio no sangue (normocalemia).
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 53 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
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein (PubMed:10926824, PubMed:14734552, PubMed:1538405, PubMed:16227998, PubMed:20151848, PubMed:24121512, PubMed:28387307, PubMed:35835865). Component of the ankyrin-1 complex of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeleta
Cell membraneBasolateral cell membrane
Ovalocytosis, Southeast Asian
An autosomal dominant hematologic disorder characterized by ovalocytic erythrocytes that are rigid and exhibit reduced expression of many erythrocyte antigens. Clinical manifestations include mild hemolysis, intermittent jaundice and gallstones. However, the disorder is most often asymptomatic.
Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity)
Nucleus
Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane
Cytoplasmic vesicle
Amelogenesis imperfecta, hypomaturation type, 2A3
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:16769747). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). Essential for the prope
Apical cell membraneBasolateral cell membrane
Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Involved in normal vectorial acid transpo
Apical cell membraneBasolateral cell membrane
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
Variantes genéticas (ClinVar)
397 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 412 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 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 — Acidose tubular renal distal
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6 ensaios clínicos encontrados, 1 ativos.
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Refractory Rickets: Evaluation and Management.
Refractory rickets refers to a set of diseases which are identified by a lack of response to therapeutic doses used to treat vitamin D deficiency. A child presenting with refractory rickets can pose a diagnostic dilemma as many kidney diseases have been identified as possible causes. Inherited (e.g., distal renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, vitamin D-dependent rickets, nephronophthisis) and acquired tubular disorders [e.g., posterior urethral valves, reflux nephropathy leading to chronic kidney disease (CKD)-mineral bone disorder] may be complicated by refractory rickets. Rarely, chronic liver disease and malabsorption states can also result in refractory rickets. Hypophosphatemia is a feature of both calcipenic as well as phosphopenic rickets. Common features accompanying refractory rickets include polyuria, polydipsia, hypokalemic paralysis, fractures, limb deformities, failure-to-thrive, short-stature, tetany and nephrocalcinosis. A careful history, examination and biochemical evaluation is required to delineate the underlying cause. Using a rational algorithmic approach, it is possible to determine the correct diagnosis in these cases. Consequent upon easy availability of next generation sequencing (NGS), the accurate diagnoses can be promptly made aiding in targeted therapy. Children with refractory rickets need regular follow-up to optimise the biochemical abnormalities, monitor growth and retard the progression of CKD. This article describes the evaluation of a child with refractory rickets using an algorithmic approach, underscores the importance of the necessary blood and urine biochemical tests as well as NGS for identification of the precise etiology of refractory-rickets; and discusses the pathophysiology and management of the most important causes of refractory-rickets.
Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.
Patients suffering from distal renal tubular acidosis (dRTA) are sometimes diagnosed with proximal tubule dysfunction with leaks of phosphate, uric acid, amino acids, and low-molecular weight proteins, a condition also known as Fanconi-like syndrome. The underlying molecular basis is largely elusive. We previously reported on ATPase H+ transporting V0 subunit a4 (Atp6v0a4) knockout (KO) mice, which exhibit severe metabolic acidosis in combination with proximal tubule dysfunction as evidenced by phosphaturia and proteinuria. Here, we show that ras analog in brain 7 (Rab7), a key regulator of endolysosomal trafficking and lysosomal biogenesis, was diminished, and the number of abnormal lysosomal-associated membrane protein 1 (Lamp1)-positive vesicles labeled for increased sodium tolerance 1 (Ist1) was increased in proximal tubules of Atp6v0a4 KO mice. This was accompanied by the accumulation of autophagosomes, autolysosomes, and autophagic substrates. Correction of metabolic acidosis with bicarbonate therapy resolved proximal tubule dysfunction and trafficking defects in Atp6v0a4 KO mice. After 28 days of acid challenge, wild-type mice showed comparable trafficking defects to Rab7 down-regulation and an increase in Ist1-labeled Lamp1-positive vesicles and proximal tubule damage. Acidosis-induced decreases in RAB7-labeled particles and increased numbers of IST1-labeled LAMP1-positive particles also occurred in proximal tubule correlates of human kidney organoids derived from the widely used induced pluripotent stem cell line KOLF2.1J. Together, our data provide insight into why patients suffering from severe dRTA can develop a Fanconi-like syndrome, which may contribute to the progression of chronic kidney failure.
Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.
Spastic paraplegia 90 (SPG90; OMIM #620416, 620417) is a rare neurologic disease caused by monoallelic or biallelic variants in the serine palmitoyltransferase small subunit A (SPTSSA) gene. This syndrome is characterized by neurodevelopmental delay, sensorineural hearing loss, progressive motor impairment, and lower extremity spasticity. To date, only three patients have been reported. In this report, we present a 10-year-old female patient with global developmental delay, inability to walk, axial hypotonia, extremity spasticity, dystonia, distal renal tubular acidosis, recurrent urinary tract infections, nephrolithiasis, neurogenic bladder, and primary polydipsia. Exome sequencing revealed a heterozygous pathogenic variant (p.Thr51Ile), which was detected in two of the reported patients, suggesting a recurrent variant in this syndrome. The neurogenic bladder and primary polydipsia found in our patient are novel findings, and we propose that genitourinary problems may be a component of the syndrome.
The Critical Care Phenotype of Hypokalemic Paralysis: Etiology, Outcomes, and Predictors of Respiratory Failure in a Retrospective Cohort Study.
Hypokalemic periodic paralysis (HPP) presenting as acute quadriparesis is a neuromuscular emergency. While its etiology is described in general wards, its severe "critical care phenotype" in the intensive care unit (ICU) remains poorly characterized. We aimed to define this phenotype by analyzing the clinical profile, etiological spectrum, and predictors of life-threatening severity. A retrospective study was conducted of 12 patients (nine male, three female; median age: 31.5 years) admitted to a tertiary ICU (2015-2021) with acute quadriparesis and hypokalemia (median potassium: 1.75 mmol/L). We analyzed management and outcomes and compared patients requiring mechanical ventilation (MV+) with those who did not (MV-) using distribution-appropriate statistical methods to identify factors associated with respiratory failure. All patients presented with acute flaccid quadriparesis and areflexia. Five (41.7%) required invasive mechanical ventilation, defining a severe "critical care phenotype." A secondary cause was identified in eight patients (66.7%), including thyrotoxicosis (n=2), distal renal tubular acidosis (n=2), primary hyperaldosteronism, sepsis, dengue fever, and gastroenteritis. Critically, the need for mechanical ventilation was not associated with the degree of hypokalemia (MV+ 1.7 mmol/L vs. MV- 1.7 mmol/L, p=0.87) or other baseline characteristics. With potassium supplementation and targeted therapy, 11 patients (91.7%) achieved complete neurological recovery; one death occurred in a patient with sepsis. HPP in the ICU represents a distinct critical care phenotype with a high risk of respiratory failure. As the requirement for mechanical ventilation was not predicted by admission potassium levels, vigilant monitoring for respiratory muscle fatigue is warranted in all cases. Favorable outcomes are achievable with prompt correction and treatment of the underlying cause, reinforcing that HPP is a reversible ICU emergency.
The European distal renal tubular acidosis registry: a five-year analysis.
Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis, growth failure nephrocalcinosis, nephrolithiasis and chronic kidney disease (CKD). Previous retrospective data suggested improved outcome with adequate metabolic control, but confirmation from prospective data is lacking. Since 2019, the European dRTA registry has collected prospective data on patients with dRTA. Herein we present results of the first data analysis. The registry is hosted as a subregistry of the European Rare Kidney Disease Network (www.ERKnet.org). In addition to the standard items of growth and plasma creatinine, additional data on plasma and urine biochemistries, genetics, treatment and clinical manifestations were collected from February 2019 through May 2024. Logistic regression analysis was used to identify predictors of CKD and impairedgrowth. Of the 214 patients enrolled in the registry, only 22% were >18 years at the last visit. A genetic cause was documented in 69% of patients.On average, low blood bicarbonate levels (<22 mmol/L) and hypercalciuria were observed in 42% and 25% of patients, respectively, independently from age. Multivariable analysis showed that height standard deviation score (SDS) was positively associated with serum bicarbonate levels (p=0.008) and with early diagnosis (p=0.005). Further modelling based on odds ratios indicated that height SDS increased progressively with serum bicarbonate levels until they reached 22-24 mmol/L. Patients aged >30 years had significantly lower eGFR (p<0.001) and the overall prevalence of CKD ≥stage 2 was 36%. Patients with SLC4A1 variants were at higher risk of CKD>1 (p=0.013). Our results in this primarily paediatric cohort highlight the importance of metabolic control and support increasing the blood bicarbonate level for therapy to 24 mmol/L to improve growth. Compared to the overall population, patients with dRTA are at higher risk of CKD from childhood, particularly if they have underlying SLC4A1 variants.
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Canadian journal of physiology and pharmacologyKidney involvement in Wilson's disease: a review of the literature.
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CEN case reportsReview of childhood genetic nephrolithiasis and nephrocalcinosis.
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Journal of the American Society of Nephrology : JASN[Intracranial hypertension syndrome as an unusual manifestation of Sjögren's syndrome. Report of one case].
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Mediterranean journal of rheumatologyA pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish.
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Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologieCentral Pontine Myelinolysis and Hypokalemic Paralysis as Presenting Manifestations of Sjogren's Syndrome.
CureusGeneration of Atp6v1g3-Cre mice for investigation of intercalated cells and the collecting duct.
American journal of physiology. Renal physiologyWilson's Disease Presents as Recurrent Hypokalemic Muscle Paralysis.
Indian journal of nephrologyAutosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?
NefrologiaRisk Profile of Patients with Brushite Stone Disease and the Impact of Diet.
Nutrients[Clinical and genetic analysis of a patient with primary distal renal tubular acidosis due to variants of ATP6V0A4 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIncomplete distal renal tubular acidosis uncovered during pregnancy: A case report.
World journal of clinical casesPattern of hereditary renal tubular disorders in Egyptian children.
The Turkish journal of pediatricsFulminant Neurologic Manifestation of Sjogren's Syndrome: A Case Report.
CureusAn Infant Case of Transient Distal Renal Tubular Acidosis and Fanconi Syndrome Caused by Rotavirus Gastroenteritis.
The Tohoku journal of experimental medicineTuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review.
Oman medical journalRenal tubular acidosis without interstitial nephritis in Sjögren's syndrome: a case report and review of the literature.
BMC nephrologyA case report of hypokalemic periodic muscular weakness secondary to Sjögren's syndrome with distal renal tubular acidosis.
Clinical case reportsNeonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the ATP6V0A4 Gene and Review of the Literature on Associated Extrarenal Manifestations.
Journal of pediatric geneticsAnti‑PD1 therapy‑associated distal renal tubular acidosis: A case report.
Experimental and therapeutic medicineRare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation.
Indian journal of nephrologyHypokalemic paralysis due to renal tubular acidosis: uncommon initial manifestation of primary Sjögren´s syndrome.
ARP rheumatologyDistal renal tubular acidosis as presenting manifestation of Wilson disease in a 11-year-old girl.
CEN case reportsA report of three cases of patients with tubulointerstitial nephritis with IgM-positive plasma cells, treatment, and serum-IgM as a sensitive marker for relapse.
BMC nephrologyQuadriparesis and Broad Complex Tachycardia Secondary to Severe Hypokalaemia Induced by Distal Renal Tubular Acidosis as the Initial Manifestation of Sjogren's Syndrome.
CureusDistal renal tubular acidosis in a patient with Hashimoto's thyroiditis: a case report.
Biochemia medicaResearch progress on renal calculus associate with inborn error of metabolism.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesTransient distal renal tubular acidosis with nephrogenic diabetes insipidus after general anaesthesia in a dog.
Veterinary medicine and sciencePrimary Sjögren's syndrome with renal tubular acidosis and central pontine myelinolysis: An unusual triad.
Clinical nephrology. Case studiesHearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.
Audiology & neuro-otology[Regulation of kidney on potassium balance and its clinical significance].
Sheng li xue bao : [Acta physiologica Sinica]Zonisamide-induced distal renal tubular acidosis and critical hypokalaemia.
BMJ case reportsThe pathophysiology of distal renal tubular acidosis.
Nature reviews. NephrologyClinical significance of hypouricemia in children and adolescents.
Pediatric nephrology (Berlin, Germany)Sulfate and acid-base balance.
Scandinavian journal of clinical and laboratory investigationHypokalemia-Induced Cardiac Arrest.
CureusA Case Report of Nearly Missed Renal Tubular Acidosis in the Setting of Sjögren's Syndrome.
CureusUrinary Ammonium in Clinical Medicine: Direct Measurement and the Urine Anion Gap as a Surrogate Marker During Metabolic Acidosis.
Advances in kidney disease and healthAn induced pluripotent stem cell line (MUSIi019-A) generated from a patient with distal renal tubular acidosis carrying a compound heterozygous mutation in solute carrier family 4 member 1 (SLC4A1) gene.
Stem cell researchMutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patients.
Frontiers in pediatricsNephrogenic Diabetes Insipidus and Distal Renal Tubular Acidosis in a Patient with Systemic Lupus Erythematosus and Secondary Antiphospholipid Syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaAnti-carbonic anhydrase II antibody reflects urinary acidification defect especially in proximal renal tubules in patients with primary Sjögren syndrome.
MedicineAcute Hypokalemic Paralysis And Hashimoto's Thyroiditisa.
Journal of Ayub Medical College, Abbottabad : JAMCSpectrum of renal dysfunction after curative parathyroidectomy in symptomatic primary hyperparathyroidism.
Annales d'endocrinologieBone mineral density and growth changes in patients with distal renal tubular acidosis after two-years treatment with a new alkalizing drug (ADV7103).
NefrologiaSevere Hypophosphatemia as the Initial Presentation of Renal Fanconi's Syndrome and Distal Renal Tubular Acidosis Related to Zoledronic Acid: A Case Report and Literature Review.
Kidney & blood pressure researchEvaluation of urinary acidification in children: Clinical utility.
Frontiers in pediatricsImpaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis.
BMC medical genomicsFailure to thrive in an 8-month-old female: Answers.
Pediatric nephrology (Berlin, Germany)[Type IVa2 urinary lithiasis and associated pathologies: About 3 cases].
Nephrologie & therapeutique[Epidemiological, clinical and evolutionary particularities of primary distal tubular acidosis in Tunisian children].
Nephrologie & therapeutiqueTenofovir-induced distal renal tubular acidosis: A rare cause of recurrent hypokalaemic paralysis.
The journal of the Royal College of Physicians of EdinburghDistal Renal Tubular Acidosis in Patients with Autoimmune Diseases-An Update on Pathogenesis, Clinical Presentation and Therapeutic Strategies.
BiomedicinesMedullary 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 ArabiaSystematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
American journal of medical genetics. Part C, Seminars in medical geneticsDistal renal tubular acidosis and lethargy associated with zonisamide treatment in a dog with idiopathic epilepsy.
Veterinary medicine and scienceAssociation of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity.
Clinical case reportsDistal renal tubular acidosis presenting with an acute hypokalemic paralysis in an older child with severe vesicoureteral reflux and syringomyelia: a case report.
BMC nephrologyHypokalemic Quadriparesis As Initial Presentation of Secondary Sjogren Syndrome With Associated Autoimmune Thyroiditis: A Case Report.
Cureus[Genotype-phenotype analysis and prognosis in children with primary distal renal tubular acidosis].
Zhonghua er ke za zhi = Chinese journal of pediatricsGenetic and clinical profile of patients with hypophosphatemic rickets.
European journal of medical geneticsCOVID-19 in Coincidence with Transient Distal Renal Tubular Acidosis in an Infant.
Case reports in infectious diseasesEffects of pediatric chronic kidney disease and its etiology on tissue sodium concentration: a pilot study.
Pediatric nephrology (Berlin, Germany)Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.
Molecular genetics and genomics : MGGHypokalemic Periodic Paralysis: An Atypical Presentation of Non-autoimmune Hypothyroidism With Distal Renal Tubular Acidosis.
CureusLong-term complications of primary distal renal tubular acidosis.
Pediatric nephrology (Berlin, Germany)Distal renal tubular acidosis and nephrocalcinosis as initial manifestation of primary sjögren's syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaAmelogenesis Imperfecta and Distal Renal Tubular Acidosis: A Case Report.
International journal of clinical pediatric dentistryMolecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.
CureusThe V-ATPases in cancer and cell death.
Cancer gene therapyPaint-thinner-induced Acute Kidney Injury: A Case Series and Review.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaA novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis.
Pediatric blood & cancerHypokalemic Paralysis Due to Primary Sjögren's Syndrome: Case Series.
The Journal of the Association of Physicians of IndiaIdiopathic Hypokalemia in Lupus Nephritis: A Newly Recognized Entity.
Kidney360Improved growth of a child with primary distal renal tubular acidosis after switching from a conventional alkalizing treatment to a new prolonged-release formulation containing potassium citrate and potassium bicarbonate: lessons for the clinical nephrologist.
Journal of nephrologyTransient Type 3 Renal Tubular Acidosis during Cyclic Vomiting Syndrome.
The Tohoku journal of experimental medicineLived experiences of patients with distal renal tubular acidosis treated with ADV7103 and of their caregivers: a qualitative study.
Orphanet journal of rare diseasesSecondary distal renal tubular acidosis and sclerotic metabolic bone disease in seronegative spondyloarthropathy.
BMJ case reportsDistal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
Journal of the American Dental Association (1939)Severe distal renal tubular acidosis secondary to primary Sjögren syndrome: response to rituximab.
Internal medicine journalComparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia.
Frontiers in pediatricsRenal Tubular Acidosis in Critically Ill Patients with Coronavirus Disease 2019 Acute Respiratory Distress Syndrome.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaDistal Renal Tubular Acidosis due to Primary Sjögren's Syndrome: Presents as Hypoakalemic Paralysis with Hypokalemia-Induced Nephrogenic Diabetes Insipidus.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaDistal Renal Tubular Acidosis Associated with Autoimmune Diseases: Reports of 3 Cases and Review of Mechanisms.
The American journal of case reportsNephrocalcinosis-A gateway to the Diagnosis.
Indian journal of nephrologyElectrolyte and Acid-Base Disorders Associated with Cancer Immunotherapy.
Clinical journal of the American Society of Nephrology : CJASNChildhood nephrolithiasis and nephrocalcinosis caused by metabolic diseases and renal tubulopathy: A retrospective study from 2 tertiary centers.
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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.
- Refractory Rickets: Evaluation and Management.
- Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.
- Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.
- The Critical Care Phenotype of Hypokalemic Paralysis: Etiology, Outcomes, and Predictors of Respiratory Failure in a Retrospective Cohort Study.
- The European distal renal tubular acidosis registry: a five-year analysis.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association· 2026· PMID 41790493mais citado
- Approach to Renal Tubular Acidosis - A Review.
- Case report: Thymoma-associated GAD65 autoimmunity: a unifying mechanism for multi-organ injury involving nervous, endocrine, and renal systems.
- ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children: Insights from a Literature Review.
- Metabolic and genetic spectrum of pediatric nephrolithiasis: insights from high-prevalence desert belt in India.
- Transient Primary Renal Tubular Acidosis During Pregnancy: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:18(Orphanet)
- MONDO:0015827(MONDO)
- GARD:4667(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2896802(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
