| 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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nidwas invoked but never defined (see the help page). - ^ Burgmaier K, Gimpel C, Schaefer F, Liebau M (April 2024) [2001]. Autosomal Recessive Polycystic Kidney Disease – PKHD1. GeneReviews® [Internet]. University of Washington. PMID 20301501. NBK1326.
- ^ Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K (March 2005). "Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)". Hum. Mutat. 25 (3): 225–31. doi:10.1002/humu.20145. PMID 15706593. S2CID 21321253.
- ^ 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.