Diagnosis of a case of autosomal recessive polycystic kidney disease with combined prenatal imaging and genetic testing.
10.3760/cma.j.cn511374-20210108-00018
- VernacularTitle:产前影像学结合遗传学检测诊断常染色体隐性多囊肾一例
- Author:
Yinghui LU
1
;
Huili LIU
;
Haojie WU
;
Liu LIU
;
Tianyou WANG
Author Information
1. Department of Ultrasonography, Zhumadian Central Hospital, Zhumadian, Henan 463000, China. hyh721001@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Genetic Testing;
Humans;
Polycystic Kidney, Autosomal Recessive/genetics*;
Pregnancy;
Prenatal Diagnosis;
Receptors, Cell Surface/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(6):585-588
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a fetus with renal abnormalities through whole exome sequencing and imaging examination.
METHODS:Clinical data and result of medical imaging of the fetus was collected. Amniotic fluid sample was collected for the extraction of fetal DNA. Whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing.
RESULTS:Prenatal ultrasonography showed that the fetus had bilateral enlargement of the kidneys with hyperechogenicity and diffuse renal cysts. Whole exome sequencing revealed that the fetus carried compound heterozygous variants of the PKHD1 gene, namely c.5137G>T and c.2335_2336delCA, which were derived from its mother and father, respectively.
CONCLUSION:The fetus was diagnosed with autosomal recessive polycystic kidney disease through combined prenatal ultrasonography and whole exome sequencing. The compound heterozygous variants of the PKHD1 gene probably underlay the pathogenesis in the fetus. The results have enabled prenatal diagnosis and genetic counseling for its parents.
