Abstract

Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder mainly caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. This study aimed to analyze the genotypes, clinical phenotypes, and their correlations of PKHD1 gene mutations in such patients.
Materials and methods: A retrospective analysis was conducted using the clinical data of 11 patients diagnosed with or suspected of having ARPKD from August 2019 to September 2024. The clinical phenotypes and laboratory evaluation results of PKHD1 gene mutations were analyzed. Whole exome sequencing and Sanger sequencing were used for the analysis of mutation gene loci and family verification.
Results: The average age of the 11 patients was 28.1 ± 8.3 years old, with 7 females (63.6%). All patients (100%) had heterozygous PKHD1 mutations, and the c.2507T>C (p.Val836Ala) variant site was detected in 3 patients (14.3%). The main clinical symptoms were chronic kidney disease stage 1 – 2 in 7/11 cases (63.6%), and systemic hypertension in 6/11 cases (54.5%). Additionally, missense mutations were present on the majority of alleles (11/19), and 7 (36.8%) were novel variant sites.
Conclusion: The clinical phenotypes of patients with ARPKD were highly variable. For suspected cases, genetic testing should be conducted as early as possible for diagnosis, which is of great significance for the prognosis of patients and genetic counseling of their families.

*Qing Wang and Yan Chu contributed equally to this work.

Author Details

Authors

• Qing Wang*
• Yan Chu*
• Guisheng Ren
• Xi Yang
• Erzhi Gao

Departments

• National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China

Address

Assistant Professor, Dr. Erzhi Gao, MD, PhD
National Clinical Research Center for Kidney Diseases
Jinling Hospital, Affiliated Hospital of Medical School
Nanjing University
305 Zhongshan East Road
211131, Nanjing, China
Email: [email protected]

Citation