Caridi G, Murer L, Bellantuono R, Sorino P, Caringella D A, Gusmano R, Ghiggeri G M
Department of Nephrology, G. Gaslini Children Hospital, Genoa, Italy.
Am J Kidney Dis. 1998 Dec;32(6):1059-62. doi: 10.1016/s0272-6386(98)70083-6.
Tapeto-retinal degeneration is frequent in patients with nephronophthisis. Association of the most severe forms of tapeto-retinal dystrophy with NPH identifies a syndrome described first by Senior et al and Loken et al. This syndrome is distinct on molecular grounds from pure renal nephronophthisis (NPH1), which has its gene locus mapped on chromosome 2q13. We describe three families with large homozygous deletion of the NPH1 locus in which mild to moderate ocular lesions due to tapeto-retinal degeneration coexisted and were correlated to renal defects. This new association of NPH1 with retinal dystrophy is characterized by focal lesions of retina and is pauci-symptomatic in clinical presentation. For this reason it may remain unrecognized in most NPH1 patients.
脉络膜视网膜变性在肾单位肾痨患者中很常见。最严重形式的脉络膜视网膜营养不良与肾单位肾痨相关联，这确定了一种由西尼尔等人和洛肯等人首先描述的综合征。这种综合征在分子层面上与纯肾性肾单位肾痨（NPH1）不同，后者的基因座定位于2号染色体q13区域。我们描述了三个家系，这些家系中NPH1基因座存在大片段纯合缺失，其中脉络膜视网膜变性导致的轻度至中度眼部病变并存，且与肾脏缺陷相关。NPH1与视网膜营养不良的这种新关联的特征是视网膜局灶性病变，临床表现症状较少。因此，在大多数NPH1患者中可能未被识别。
