Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features. Disease data Classification Clinical subtype Synonyms AR dRTA AR dRTA Autosomalna recesywna dystalna RTA Autosomal recessive distal RTA ORPHA code 402041 OMIM code 602722 ICD10 code N25.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl