A full-term newborn presents with severe respiratory distress within 2 hours of birth. Vital signs show tachypnea (RR 68/min), tachycardia (HR 168/min), and hypoxemia (SpO2 88% on room air). Physical examination reveals bilaterally enlarged kidneys and hepatomegaly. Abdominal ultrasound demonstrates increased echogenicity of both kidneys with loss of corticomedullary differentiation and hepatic fibrosis. Serum creatinine is 2.1 mg/dL. There is no cardiac murmur on auscultation. Which diagnosis best explains this clinical presentation?
- A)Mutation of polycystin causing adult onset cortical and medullary cysts
- B)Mutation affecting fibrocystin leading to collecting duct cystic dilationGABARITO
- C)Mutation of nephrin causing congenital nephrotic syndrome
- D)Deletion of WT1 causing nephroblastoma
- E)Mutation of type IV collagen causing basement membrane splitting
Explicação
Autosomal recessive polycystic kidney disease presents in infancy or childhood with enlarged smooth kidneys due to collecting duct cystic dilation and is associated with congenital hepatic fibrosis. Severe oligohydramnios can lead to Potter sequence and neonat... Ver explicação completa e trilha adaptativa →