Anochie I C, Eke F U, Okpere A N
Department of Pediatrics, University of Port Harcourt Teaching Hospital, PMB 6173, Port-Harcourt, Rivers State, Nigeria.
West Afr J Med. 2012 Oct-Dec;31(4):273-6.
Focal segmental glomerulosclerosis (FSGS) is a significant cause of end-stage renal disease. It is generally considered to be sporadic but familial cases have been reported in varied ethnic groups. Genetic mutations implicated in familial FSGS involving NPHS1, NPHS2, WTI and APOL1 have not been studied in African children living outside America. This is the first report of familial FSGS and genetic study from children living in Africa.
We reported two siblings; a 4-year old male and a 15-year old female from a non-consanguineous family with renal biopsy-confirmed FSGS who presented with Nephrotic syndrome (NS). The male was steroid dependent NS and achieved long term remission after two courses of oral cyclophosphamide, while the elder sister is steroid resistant and has not achieved remission with cyclosporine. We performed mutational analysis on the family by sequencing both strands of all exons of NPHS2, WT1 and APOL1 using exon flanking primers. There was absence of common gene mutations in NPHS2, WT1 and APOL1 gene in any of the two children.
We present for the first time mutational analysis of NPHS2, WT1 and APOL1 in a sibling with familial FSGS from Nigeria. There may be different and unidentified gene mutations responsible for FSGS in indigenous African children.
局灶节段性肾小球硬化（FSGS）是终末期肾病的重要病因。通常认为其为散发性，但不同种族均有家族性病例的报道。涉及NPHS1、NPHS2、WT1和APOL1的家族性FSGS相关基因突变，尚未在居住在美国以外的非洲儿童中进行研究。这是来自非洲儿童的家族性FSGS及基因研究的首例报告。
我们报告了一对来自非近亲家庭的兄弟姐妹；一名4岁男性和一名15岁女性，经肾活检确诊为FSGS，表现为肾病综合征（NS）。男性为激素依赖型NS，经两个疗程口服环磷酰胺后实现长期缓解，而姐姐为激素抵抗型，使用环孢素未实现缓解。我们通过使用外显子侧翼引物对NPHS2、WT1和APOL1所有外显子的两条链进行测序，对该家族进行了突变分析。两个孩子中任何一个的NPHS2、WT1和APOL1基因均未发现常见基因突变。
我们首次对来自尼日利亚的患有家族性FSGS的一对兄弟姐妹进行了NPHS2、WT1和APOL1的突变分析。在非洲本土儿童中，可能存在导致FSGS的不同且未被识别的基因突变。
