autosomal recessive pkd (arpkd)

How is ARPKD Diagnosed?

Diagnosis often involves a combination of clinical evaluation, family history, and imaging studies such as ultrasound or MRI. Genetic testing can confirm the diagnosis by identifying mutations in the PKHD1 gene, which is responsible for the disease.

Frequently asked queries:

What is Autosomal Recessive Polycystic Kidney Disease (ARPKD)?

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