Renal tubular acidosis in a case of Shwachman's syndrome.
We describe metabolic acidosis in a 15-month-old girl with clinical features of Shwachman's syndrome. Renal function tests indicated that the patient had type 1 renal tubular acidosis. Based on our findings and other reports of renal tubular dysfunction in patients with Shwachman's syndrome, we conclude that it is important to look for a possible renal tubular defect in this syndrome.
D000141:Acidosis, Renal Tubular / Q000175:diagnosis*; D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome