Bockenhauer Detlef, Rees Lesley, van't Hoff William
Paediatric Nephrology, Great Ormond Street Hospital, Great Ormond Street, London, WC1 3JH, UK.
Pediatr Nephrol. 2006 Apr;21(4):580-3. doi: 10.1007/s00467-006-0009-6. Epub 2006 Mar 1.
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.
我们报告了一名近亲结婚父母所生男孩身上出现的罕见肾脏疾病组合。他在出生后第一年因脱水和泌尿道感染就诊，随后经超声检查发现有尿浓缩功能减退和远端肾小管酸中毒，而肾脏外观正常。到4岁时，他双肾出现多个大囊肿，其肾病最终进展，到17岁时已接近终末期肾病（ESRD）。最初的肾小管功能障碍随后出现多个囊肿，这种关联可能代表了一种新的肾脏疾病形式。
