Polycystic kidney disease: The Daily PANCE Blueprint
Which of the following genetic mutations is most commonly associated with autosomal dominant polycystic kidney disease?
A. BRCA1
B. PKD1
C. HNF1A
D. CFTR
E. HLB 27
Answer and topic summary
The answer is B. PKD1
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease and the 4th most common cause for renal replacement therapy worldwide. It is defined by the development and growth of cysts inside the kidneys. Mutations in two genes (i.e., PKD1 and PKD2) account for most of ADPKD cases. Clinical features you may see include: abdominal pain, recurring UTIs, hematuria, and hypertension. Renal US is the preferred modality of choice for screening patients. However, if the patient has typical findings of ADPKD and it’s highly suspected, the recommendations are to obtain a CT or MRI rather than an ultrasound as it can serve as baseline imaging. Management includes blood pressure control, pain management, effective antibiotics for UTIs, and eventual renal replacement therapy (ideally a kidney transplant).
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Covered under ⇒ PANCE Blueprint Renal System ⇒ ⇒
