Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, 400037, China.
Department of Medical Genetics, Army Medical University (Third Military Medical University), Chongqing, 400038, China.
BMC Med Genet. 2020 Apr 19;21(1):84. doi: 10.1186/s12881-020-01025-x.
Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life. As an inherited disorder with highly genetic heterogeneity and clinical presentations, NPHP still poses a challenging task for nephrologists without special training to make a well-judged decision on its precise diagnosis, let alone its mechanism and optimal therapy.
A Chinese family with NPHP was recruited in current study. The clinical characteristics (including findings from renal biopsy) of NPHP patients were collected from medical records and the potential responsible genes were explored by the whole exome sequencing (WES). A homozygous deletion of NPHP1 (1-20 exons) was found in both affected patients, which was further confirmed by quantitative PCR.
Homozygous full gene deletion of the NPHP1 gene was identified in a Chinese family with NPHP, which was the molecular pathogenic basis of this disorder. Furthermore, identification of the pathogenic genes for those affected patients can help to have a full knowledge on NPHP's molecular mechanism and precise treatment.
肾髓质囊性病（NPHP）是一种罕见的常染色体隐性遗传性疾病，具有高度异质性。大多数 NPHP 患者在生命的头三十年就会进展至终末期肾病（ESRD）。由于该病具有高度遗传异质性和临床表现，对于没有特殊培训的肾病学家来说，要做出准确的诊断仍然是一项具有挑战性的任务，更不用说其发病机制和最佳治疗方法了。
本研究纳入了一个有 NPHP 的中国家庭。从病历中收集了 NPHP 患者的临床特征（包括肾活检结果），并通过全外显子组测序（WES）探索了潜在的致病基因。在两名受影响的患者中均发现了 NPHP1（1-20 外显子）的纯合缺失，该结果通过定量 PCR 进一步得到了证实。
在中国的一个 NPHP 家系中发现了 NPHP1 基因的纯合全基因缺失，这是该疾病的分子发病基础。此外，对受影响患者的致病基因的鉴定有助于全面了解 NPHP 的分子机制和精准治疗。
