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24 January 2023 : Case report  Israel

Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report

Rare disease, Congenital defects / diseases

Jacob D. Van Buren1ACDEF*, Jeremy T. Neuman2BD, Richard Sidlow3ABCDE

DOI: 10.12659/AJCR.938507

Am J Case Rep 2023; 24:e938507


BACKGROUND: The polycystic kidney and hepatic disease 1 (PKHD1) gene codes for fibrocystin-polyductin, a protein that takes part in cell-signaling for cell differentiation, especially in kidney tubules and bile ducts. A homozygous or compound heterozygous defect in this gene can cause autosomal recessive polycystic kidney disease (ARPKD). Polycystic liver disease (PCLD) can also be caused by single heterozygous variants in the PKHD1 gene. ARPKD presents with renal insufficiency and cystic dilatation of bile ducts, although disease is not expected with a single heterozygous mutation. PCLD presents with multiple cysts in the liver and dilated bile ducts as well, but with less of an impact on the kidneys than with ARPKD. Our purpose in publishing this report is to introduce an as-yet unknown variant to the body of genetic defects associated with ARPKD and PCLD, as well as to argue for the likely pathogenicity of the variant according to the prevailing criteria used for classifying gene variants.

CASE REPORT: We present a patient with a de novo PKHD1 variant currently classified as a variant of unknown significance manifesting with bilaterally enlarged cystic kidneys and echogenic cystic structures in the hepatic portal system, indicative of cystic disease.

CONCLUSIONS: Given this patient’s liver and kidney presentation that does not fully align with either ARPKD or PCLD, the authors believe that the single heterozygous variant in this patient’s PKHD1 gene is worthy of reporting. This new single heterozygous variant in PKHD1 gene causing cystic kidney and cystic hepatic disease in the patient should be considered ‘likely pathogenic’ according to the criteria set by the American College of Medical Genetics.

Keywords: PKHD1 Protein, Human, Polycystic Kidney Disease 1 Protein, Polycystic Kidney, Autosomal Dominant, Polycystic Kidney, Autosomal Recessive, polycystic liver disease


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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923