Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome.
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome.
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DOI：
10.12659/ajcr.883751
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Kawano M
中科院分区：
文献类型：
--
作者：
Onoe T;Konoshita T;Tsuneyama K;Hamano R;Mizushima I;Kakuchi Y;Yamada K;Hayashi K;Kuroda M;Kagitani S;Nomura H;Yamagishi M;Kawano M
内翻是囊性肾脏疾病的一种罕见并发症。只有INVS(NPHP2)、NPHP3和PKD2三个基因已被证明与某些病例有关，而其他许多病例的致病基因尚不清楚。我们在此报告两位男性患者，合并囊性肾脏病，且无多囊肾病家族史。他们的肾功能在童年时正常，但在中年达到终末期肾病。INVS、IFT88、PKD2、UMOD、NPHP3基因突变分析未发现致病突变。以往报道的内脏及囊性肾脏疾病分为三组，即妊娠期致死性肾发育不良组、婴幼儿肾炎组和多囊肾病组。目前的患者与这些群体中的每一个都不同。此外，这两个病例的肾脏病变有很大的不同，一个表现为轻度萎缩的肾脏伴少量囊性病变，另一个表现为增大的多囊肾病变，提示实体非常不同。
Situs inversus is a rare complication of cystic kidney diseases. Only three genes, INVS (NPHP2), NPHP3 and PKD2 have been proved to be responsible for some cases, while the responsible genes in many others are still unknown. Here we report two male patients with situs inversus combined with cystic kidney disease without any family history of polycystic kidney disease. Their renal function was normal in childhood but culminated in end stage renal disease in middle age. No pathogenic mutations were found in mutation analysis of INVS, IFT88, PKD2, UMOD or NPHP3 in them. Past reported cases of situs inversus and cystic kidney diseases were divided into three groups, i.e., gestational lethal renal dysplasia group, infantile or juvenile nephronophthisis group and polycystic kidney disease group. The present patients are different from each of these groups. Moreover, the renal lesions of the present two cases are quite different from each other, with one showing mildly atrophic kidneys with small numbers of cysts and the other an enlarged polycystic kidney disease, suggesting very heterogeneous entities.