Autosomal recessive polycystic kidney disease | |
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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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