Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease.
10.3760/cma.j.cn511374-20211022-00840
- VernacularTitle:一例常染色体隐性多囊肾病患儿的临床特征及基因变异分析
- Author:
Shanshan GAO
1
;
Qianqian LI
;
Peng DAI
;
Ganye ZHAO
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Child;
Exons;
Female;
Genetic Testing;
Humans;
Infant, Newborn;
Male;
Mutation;
Polycystic Kidney, Autosomal Recessive/genetics*;
Pregnancy;
Receptors, Cell Surface/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(10):1103-1106
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical characteristics and molecular pathogenesis of a child with autosomal dominant polycystic kidney disease (ARPKD).
METHODS:Prenatal ultrasound, clinical feature and family history of the child were analyzed. Whole exome sequencing was carried out for the child. Candidate variants were verified by Sanger sequencing.
RESULTS:The child has featured premature birth with very low weight, neonatal respiratory distress, metabolic acidosis, and congenital nephrotic syndrome. Gene sequencing revealed that he has harbored compound heterozygous variants of the PKHD1 gene (NM_138694), including c.3885T>A (p.Tyr1295*) in exon 32 and c.7812_7816dupTGATA (p.Thr2606Metfs*63) in exon 49, which were respectively inherited from his mother and father.
CONCLUSION:The compound heterozygous variants of the PKHD1 gene probably underlay the disease in this child.
