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    SubjectsPediatricsAutosomal Recessive Polycystic Kidney Disease PKHD1 Pedigree
    ClinicalPediatrics

    Autosomal Recessive Polycystic Kidney Disease PKHD1 Pedigree

    1 MCQs in Pediatrics for NEET PG

    1 Medium
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    Sample Questions

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    A newborn male infant is delivered at 34 weeks with severe respiratory distress, oligohydramnios, Potter facies, and bilateral palpable flank masses. Ultrasound reveals markedly enlarged, echogenic kidneys with loss of corticomedullary differentiation and radially oriented cystic dilatation of collecting ducts. Liver imaging shows congenital hepatic fibrosis with ductal plate malformation. The pedigree pattern shown at **B** in the diagram demonstrates consanguineous unaffected parents with two affected siblings and one previous pregnancy loss. Genetic testing confirms compound heterozygous mutations in PKHD1 encoding fibrocystin. What is the recurrence risk for future pregnancies in this family?

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