The cause of<unk>  is linked to mutations in the PKHD1 gene. Micrograph of von Meyenburg complex.<unk>  is a significant hereditary renal disease in that appears in childhood. The prevalence is estimated to be of 1 in 20,000 live births, with a reported carrier frequency of up to 1:70. The single gene mutation called PKHD1 is fully responsible for the disease presentation of<unk> . This PKHD1 is located on the human chromosome region 6p21.1–6p12.2. It is also one of the largest genes in the genome as it occupies approximately 450 kb of DNA, and contains at least 86 exons. It is capable of producing multiple alternatively spliced transcripts. The largest known transcript encodes fibrocystin /polyductin (FPC), which is a large receptor-like integral membrane protein of 4074 amino acids. The structure of the FPC consist of a single transmembrane, a large N-terminal extracellular region, and a short intracellular cytoplasmic domain. The FPC protein is found on the primary cilia of epithelia cells of cortical and medullary collecting ducts and cholangiocytes of bile ducts, and show similarity to polycystins and several other ciliopathy proteins. FPC is also found to be expressed on the basal body and plasma membrane. It is presumed that the large extracellular domain of FPC binds to a ligand(s) that is yet unknown and that is also involved in cell-cell and cell-matrix interactions. It is known that FPC interacts with<unk>  protein PC2 and may also participate in this regulation pathway of the mechanosensory function of the primary cilia, calcium signaling, and PCP. This is suggesting a common mechanism underlying cystogenesis between<unk>  and<unk> . The FPC protein is also found on the centrosomes and mitotic spindle and may regulate centrosome duplication and mitotic spindle assembly during cell division. There have been a large number of various single-gene mutations found throughout PKHD1 and are unique to individual families. Most of the patients are compound heterozygotes for PKHD1 mutations. Patients with two nonsense mutations appear to have an earlier onset of the disease.
Autosomal recessive polycystic kidney disease
Autosomal dominant polycystic kidney disease
Medullary cystic kidney disease
Glomerulocystic kidney disease
Medullary sponge kidney
Renal segmental hypoplasia
Juvenile nephronophthisis
Multicystic dysplastic kidney