A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis
نویسندگان
چکیده
منابع مشابه
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families
BACKGROUND Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestation...
متن کاملMutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
BACKGROUND Mutations in the ATP6V1B1 and the ATP6V0A4 genes cause primary autosomal-recessive distal renal tubular acidosis (dRTA). Large deletions of either gene in patients with dRTA have not been described. METHODS The ATP6V1B1 and ATP6V0A4 genes were directly sequenced in 11 Japanese patients with primary dRTA from nine unrelated kindreds. Large heterozygous deletions were analyzed by qua...
متن کاملGenetic causes and mechanisms of distal renal tubular acidosis.
The primary or hereditary forms of distal renal tubular acidosis (dRTA) have received increased attention because of advances in the understanding of the molecular mechanism, whereby mutations in the main proteins involved in acid-base transport result in impaired acid excretion. Dysfunction of intercalated cells in the collecting tubules accounts for all the known genetic causes of dRTA. These...
متن کاملAmelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome?
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal ren...
متن کاملDistal Renal Tubular Acidosis with Grade 4 Vesicoureteral Reflux in a Child with Single Kidney
Introduction Renal tubular acidosis (RTA) is a non-uremic defects of urinary acidification. It is characterized by a normal anion gap hyperchloremic metabolic acidosis; plasma potassium may be normal, low or high-depending on the type of RTA. These syndromes differ from uremic acidosis which is associated with a high anion gap, decreased glomerular filtration with enhanced proton secretion b...
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ژورنال
عنوان ژورنال: Medicine
سال: 2019
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000016504