Jain Vani, Feehally John, Jones Gabriela, Robertson Lisa, Nair Dheepa, Vasudevan Pradeep
Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.
Department of Nephrology , Leicester General Hospital, University Hospitals of Leicester , Leicester , UK.
Clin Kidney J. 2014 Jun;7(3):303-5. doi: 10.1093/ckj/sfu028. Epub 2014 Apr 2.
Genetic causes of steroid-resistant nephrotic syndrome are being increasingly recognized. Mutations in NPHS2, which encodes the glomerular protein podocin, account for up to 17% of sporadic and 40% of familial cases, where they display an autosomal-recessive pattern of inheritance. This report describes a non-consanguineous family with three generations of individuals who are either compound heterozygotes for mutations in NPHS2 or who have inherited a mutation and a non-neutral polymorphism (R229Q). As well as providing an aetiological explanation, identifying pathogenic mutations and considering genotype-phenotype correlations can provide prognostic information and lead to changes in genetic counselling and management.
类固醇抵抗性肾病综合征的遗传病因正越来越受到认可。编码肾小球蛋白足突蛋白的NPHS2基因突变在散发性病例中占比高达17%，在家族性病例中占比达40%，这些病例呈现常染色体隐性遗传模式。本报告描述了一个非近亲结婚的家族，其中三代人要么是NPHS2基因突变的复合杂合子，要么继承了一个突变和一个非中性多态性（R229Q）。除了提供病因学解释外，识别致病突变并考虑基因型与表型的相关性可以提供预后信息，并导致遗传咨询和管理的改变。
