An association of tubular dysfunction, cortical macrocysts and chronic kidney disease.
We present an unusual combination of kidney disorders in a boy born to consanguineous parents. He presented in the first year of life with dehydration and urosepsis and was subsequently found to have hyposthenuria and distal renal tubular acidosis, with normal appearance of the kidneys, by ultrasound examination. By 4 years of age he had developed multiple large cysts in both kidneys, and his nephropathy eventually progressed so that at 17 years of age he is approaching end-stage renal disease (ESRD). The association of initial tubular dysfunction followed by the development of multiple cysts may represent a new form of kidney disease.
Bockenhauer
Detlef
D
Paediatric Nephrology, Great Ormond Street Hospital, Great Ormond Street, London, WC1 3JH, UK. bocked@gosh.nhs.uk
Rees
Lesley
L
van't Hoff
William
W
D000141:Acidosis, Renal Tubular / Q000150:complications*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000150:complications*; D052177:Kidney Diseases, Cystic / Q000150:complications*; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male