先天性肾病综合征
肾病综合征
医学
突变
儿科
基因
病理
内科学
遗传学
肾
生物
蛋白尿
作者
Banu Aydın,Mehmet Şah İpek,Fatih Özaltın,Ayşegül Zenciroğlu,Dílek Díllí,Serdar Beken,Nurullah Okumuş,N Hoşağasi,B Saygili-Karagöl,Ahmet Afşin Kundak,Rahime Renda,Özlem Aydoğ
出处
期刊:PubMed
日期:2013-01-01
卷期号:24 (2): 141-7
被引量:9
摘要
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.
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