Authors: P. Jarolím; E. Seemanová Authors‘ workplace: Ústav hematologie a krevní transfuze, Praha, ředitel MUDr. RNDr. P. Jarolím, DrSc. Ústav biologie a lékařské genetiky 2. LF UK, FNsP v Motole, Praha, vedoucí prof. MUDr. P. Goetz, CSc. Published in: Čes-slov Pediat 1999; (2): 102-105. Category:
Renal tubular acidosis I distal type (dRTA I) is a rare autosomal dominant disorder with a primary defect ofurinary acidification. Clinical symptoms are variable and include growth retardation, rickets and nephrocalcino-sis. Laboratory findings include metabolic acidosis, fixed specific gravidity of urine (1004 - 1010), fixed urinarypH of about 5.0, increased serum chloride, low serum bicarbonate, hypocalcaemia. Authors present data on thefamilial occurrence this disorder in a severely affected daughter and her mildly affected father. The diagnosis wasconfirmed by detection of mutation in the anion exchanger 1 (AE1) gene in both the father and the daughter. DNAanalysis can be used for postnatal as well as prenatal detection of this treatable disorder.
Key words: autosomal dominant inheritance, renal tubular acidosis type I, defect of distal tubule, nephrocal-cinosis, anion exchanger 1 gene (AE1) mutation responsible for dRTA
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