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The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants.

We present a case of a 37-year-old Caucasian woman with abdominal distension and loss of weight. She was initially presumed to be a case of ovarian malignancy due to an elevated serum cancer antigen 125 (CA 125) level and imaging of abdomen and pelvis that showed ascites and bulky ovaries. However, histological examination of biopsy later revealed it to be a case of abdominal tuberculosis (AbT). Ascitic fluid was also found to be positive for Mycobacterium tuberculosis by whole genome sequencing. The patient was started on antituberculosis treatment following which she showed a significant improvement in her symptoms.