A 2-day-old male presents with severe generalized edema and oliguria. Vital signs show BP 65/42 mmHg, HR 145/min, RR 38/min, and temperature 37.2°C. Urinalysis reveals massive proteinuria (8.5 g/24 hours) with bland sediment. Serum albumin is 1.8 g/dL; serum creatinine is 1.4 mg/dL. Renal ultrasound shows normal-sized kidneys without hydronephrosis. Genetic testing identifies a mutation affecting the slit diaphragm between podocyte foot processes. Which protein is most likely abnormal?
- A)Renin
- B)Uromodulin
- C)Aquaporin 2
- D)Carbonic anhydrase
- E)NephrinGABARITO
Explicação
Nephrin is correct. Nephrin is a key structural component of the slit diaphragm between podocyte foot processes and is essential for normal glomerular filtration barrier selectivity. Severe congenital defects can produce massive neonatal proteinuria. Ver explicação completa e trilha adaptativa →