Hafeez Farkhanda, Rasool Farooq, Ahmad Tahir Masood
Department of Paediatrics Nephrology, The Children's Hospital, & Institute of Child Health, Lahore.
J Coll Physicians Surg Pak. 2005 Jun;15(6):368-70.
The case report describes a young boy with renal, retinal, hepatic and cerebellar involvement in a rare syndrome. He had polyuria, deranged renal functions and cystic lesions in kidneys, which led to the diagnosis of nephronophthisis (NPH). Extra-renal involvement with night blindness, truncal ataxia, mental retardation and hepatosplenomegaly. Thus, every patient with NPH should be carefully examined for extra-renal involvement.
该病例报告描述了一名患有罕见综合征且累及肾脏、视网膜、肝脏和小脑的小男孩。他有多尿症状、肾功能紊乱以及肾脏囊性病变，这导致了肾单位肾痨（NPH）的诊断。存在肾外受累情况，包括夜盲、躯干共济失调、智力发育迟缓以及肝脾肿大。因此，每一位肾单位肾痨患者都应仔细检查是否存在肾外受累情况。
