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Acidosis, Renal Tubular

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Definition: A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.      Other names Type II Renal Tubular Acidosis; Type I Renal Tubular Acidosis; Renal Tubular Acidosis, Type II; Renal Tubular Acidosis, Type I; Renal Tubular Acidosis; Renal Tubular Acidosis, Proximal, with Ocular Abno; Renal Tubular Acidosis, Distal, Autosomal Dominant; Proximal Renal Tubular Acidosis; Distal Renal Tubular Acidosis; Classic Distal Renal Tubular Acidosis; Acidosis, Renal Tubular, Type II; Acidosis, Renal Tubular, Type I
 
SubstanceCAS Registry & nameCategoriesSource
Autosomal dominant distal renal tubular acidosis  0   *Acidosis, Renal Tubular.
Renal tubular acidosis, distal, type 3  0   *Acidosis, Renal Tubular.
Renal tubular acidosis, distal, autosomal recessive  0   *Acidosis, Renal Tubular.
Neuroaxonal dystrophy renal tubular acidosis  0   *Acidosis, Renal Tubular *Neuroaxonal Dystrophies. Ann Neurol 13(6):608-15
Whyte Murphy Fallon Sly syndrome  0   *Acidosis, Renal Tubular *Calcinosis *Osteopetrosis Basal Ganglia/abnormalities.
Osteopetrosis with renal tubular acidosis  0   *Acidosis, Renal Tubular *Osteopetrosis *Urea Cycle Disorders, Inborn Carbonic Anhydrases/deficiency.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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