Nyberg G, Friman S, Svalander C, Nordén G
Transplant Unit, Sahlgrenska University Hospital, Göteborg, Sweden.
Nephrol Dial Transplant. 1995;10(6):859-65.
Re-evaluation of the underlying renal disease in 1000 consecutive kidney transplant patients revealed 129 cases of adult autosomal dominant polycystic kidney disease and 60 clear and seven suspected cases with other hereditary renal disorders. Twenty-four of 60 patients had cystic/dysplastic disease--10 of these classified as nephronophthisis, five as polycystic disease, and nine with the renal affection as part of a congenital malformation syndrome. Thirteen patients had Alport's syndrome, nine were diagnosed with tubulointerstitial nephritis, and six had an adult form of focal segmental glomerular sclerosis (FSGS). Two had changes classified as nephrosclerosis, but with an autosomal dominant mode of inheritance. Finnish type congenital nephrotic syndrome was present in two children and familial amyloidosis in two adults. Two patients had an unclassified disease. During follow-up, five patients with cystic/dysplastic disorders manifested liver disease. None of the patients with FSGS had recurrence and none of the Alport patients had anti-GBM disease. There were no other complications related to the renal condition. In conclusion, hereditary disorders are underestimated in regular registries of patients with end-stage renal failure. An adult form of FSGS and what seems to be a hereditary form of nephrosclerosis are among those that merit further study.
对1000例连续肾移植患者潜在的肾脏疾病进行重新评估，发现129例成人常染色体显性多囊肾病，60例明确诊断为其他遗传性肾脏疾病的患者以及7例疑似患者。60例患者中有24例患有囊性/发育异常疾病，其中10例归类为肾单位肾痨，5例为多囊肾病，9例肾脏病变是先天性畸形综合征的一部分。13例患者患有阿尔波特综合征，9例被诊断为肾小管间质性肾炎，6例患有成人型局灶节段性肾小球硬化症（FSGS）。2例患者的病变归类为肾硬化症，但具有常染色体显性遗传模式。2名儿童患有芬兰型先天性肾病综合征，2名成人患有家族性淀粉样变性。2例患者患有未分类疾病。在随访期间，5例患有囊性/发育异常疾病的患者出现了肝脏疾病。FSGS患者均无复发，阿尔波特综合征患者均无抗肾小球基底膜病。没有其他与肾脏疾病相关的并发症。总之，遗传性疾病在终末期肾衰竭患者的常规登记中被低估。成人型FSGS以及一种似乎是遗传性肾硬化症值得进一步研究。
