Autosomal recessive polycystic kidney disease information
Medical condition
Autosomal recessive polycystic kidney disease
Other names
ARPKD
ARPKD is inherited in an autosomal recessive pattern
Specialty
Medical genetics
Symptoms
Polyuria[1]
Causes
Mutations in the PKHD1 gene[2]
Diagnostic method
Ultrasound[3]
Treatment
Medications for hypertension[4]
Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes.[5] Mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD.[6][7]
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^Burgmaier, Kathrin; Gimpel, Charlotte; Schaefer, Franz; Liebau, Max (1993). "Autosomal Recessive Polycystic Kidney Disease – PKHD1". GeneReviews®. University of Washington, Seattle. Retrieved 28 April 2024
^Zhang MZ, Mai W, Li C, et al. (February 2004). "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells". Proc. Natl. Acad. Sci. U.S.A. 101 (8): 2311–6. Bibcode:2004PNAS..101.2311Z. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006.
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