Abstract

A 24-year-old man with no significant medical history presented with hypertension, asthenia, and worsening dyspnea for 3 weeks. Physical examination was unremarkable, except for elevated blood pressure at 190/100 mm Hg. His grandmother presented with terminal renal failure of unknown origin at an adult age. Lab tests revealed serum creatinine 2128 μmol/l, blood urea nitrogen 68 mmol/l, hemoglobin level 9.0 g/dl, metabolic acidosis, and hypocalcemia. Renal ultrasound showed bilateral atrophic echogenic kidneys.

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