USMLE Step 1 Question of the Week #5

A 68-year-old male, a recent immigrant from Africa, and a known case of hypertension for the last five years, presents in emergency with a complaint of difficulty in vision for last one day. The patient had similar episodes in the past, but they resolved by themselves. He was taking antihypertensive medications for last three years, and his blood pressure has been under control. His father died due to road accident when he was only seven years old. All other family members are healthy. On examination, his pulse is 104 beats/mins, BP 140/80 mmHg, respiratory rate is 17 breath/min. Chest and cardiovascular examinations are normal. Abdominal examination reveals a mass in left lumbar region. Laboratory studies show:

Hemoglobin:                18.8 g/dL

Leukocytes:                 9200/mm3

Platelet count:              259000 /mm3

Random Blood Sugar: 107 mg//dL

Blood Urea Nitrogen:   19 mg/dL

Serum Creatinine:        1.4 mg/dL

Serum Sodium:                        140 mEq/L

Serum Potassium:        4.0 mEq/L

Serum Calcium:           8.9 mg/dL

Serum Magnesium:      1.6 mEq/L

Serum Bicarbonate:     24 mEq/L

Serum Cholesterol:      210 mg/dL

HbA1c:                        6.3

After CT scan brain, the patient underwent a whole body imaging. Images are shown below:

question_222

Which of the following genes are responsible for this disease from which patient is suffering?

A. VHL suppressor gene

B. FGFR3 gene

C. CFTR gene

D. CNBP and DMPK genes

E. COL1A

Ref: Q.ID #953

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