IllnessPolycystic liver disease, differential diagnosis

NGS +

[Sanger]

In isolated polycystic liver disease, the same liver cysts occur in adulthood as in autosomal dominant polycystic kidney disease with liver cysts. These cysts may arise from malformations of the so-called ductal plates due to abnormalities in late embryonic bile duct genesis, or they may occur without malformations of the bile ducts. Liver cysts are often asymptomatic, eventual symptoms are usually more severe in women. Polycystic liver disease comprises a heterogeneous group of genetic disorders. Isolated liver cysts are caused by mutations in PRKCSH, SEC63, and LRP5, whereas PKD1, PKD2, and PKHD1 mutations cause renal cysts, which are often accompanied by liver cysts. GANAB mutations can cause both phenotypes. These mutations, together with those mutations in SEC61B, ALG8, and very rarely other genes, are found in ∼50% of patients with isolated polycystic liver disease. Therefore, a negative molecular genetic result by no means excludes the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1246/

https://www.ncbi.nlm.nih.gov/books/NBK1326/

https://pubmed.ncbi.nlm.nih.gov/30652979/

• Alias: Polycystic liver disease with/-out kidney cysts
• Allelic: Congenital disorder of glycosylation, type Ih (ALG8)
• Allelic: Congenital disorder of glycosylation, type Il (ALG9)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Cerebroretinal microangiopathy with calcifications and cysts 2 (STN1)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Gillessen-Kaesbach-Nishimura syndrome (ALG9)
• Joubert syndrome 27 (B9D1)
• Meckel syndrome 9 (B9D1)
• Polycystic kidney disease 1 (PKD1)
• Polycystic kidney disease 2 (PKD2)
• Polycystic kidney disease 3 (GANAB)
• Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
• Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
• Polycystic liver disease 1 (PRKCSH)
• Polycystic liver disease 1 with/-out renal cysts [association with] (SEC61B)
• Polycystic liver disease 2 (SEC63)
• Polycystic liver disease 3 with/-out kidney cysts (ALG8)
• Polycystic liver disease 4 with/-out kidney cysts (LRP5)