A 6-year-old child has been drinking more water, with more frequent urination, for the past 7 months. On physical examination, dehydration is noted. Urinalysis findings include a pH of 6.5; specific gravity, 1.010; and no protein, blood, glucose, or ketones. There are no WBCs, RBCs, or casts. Serum electrolytes show Na+, 152 mmol/L; K+, 4.6 mmol/L; Cl-, 120 mmol/L; HCO3-, 21 mmol/L; urea nitrogen, 29 mg/dL; and creatinine, 3.2 mg/dL. An ultrasound scan shows bilaterally small kidneys with barely visible medullary cysts concentrated at the corticomedullary junction. Which of the following genes is most likely mutated in this child?
A 6-year-old child has been drinking more water, with more frequent urination, for the past 7 months. On physical examination, dehydration is noted. Urinalysis findings include a pH of 6.5; specific gravity, 1.010; and no protein, blood, glucose, or ketones. There are no WBCs, RBCs, or casts. Serum electrolytes show Na+, 152 mmol/L; K+, 4.6 mmol/L; Cl-, 120 mmol/L; HCO3-, 21 mmol/L; urea nitrogen, 29 mg/dL; and creatinine, 3.2 mg/dL. An ultrasound scan shows bilaterally small kidneys with barely visible medullary cysts concentrated at the corticomedullary junction. Which of the following genes is most likely mutated in this child?
π‘ Explanation
A 6-year-old child has been drinking more water, with more frequent urination, for the past 7 months. On physical examination, dehydration is noted. Urinalysis findings include a pH of 6.5; specific gravity, 1.010; and no protein, blood, glucose, or ketones. There are no WBCs, RBCs, or casts. Serum electrolytes show Na+, 152 mmol/L; K+, 4.6 mmol/L; Cl-, 120 mmol/L; HCO3-, 21 mmol/L; urea nitrogen, 29 mg/dL; and creatinine, 3.2 mg/dL. An ultrasound scan shows bilaterally small kidneys with barely visible medullary cysts concentrated at the corticomedullary junction. Which of the following genes is most likely mutated in this child?
β Correct Answer: B. NPHP1
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