Resumen

TAPIA ZERPA, Carlos Enrique y MIYAHIRA ARAKAKI, Juan. Síndrome de Alport autosómico recesivo. : A propósito de un caso. Rev Med Hered, ene./mar. 2008, vol.19, no.1, p.25-28. ISSN 1018-130X.

Woman, 14 year old from San Martin (Peru), was admitted to hospital with a history of three months of dyspnea, pallor and hyporexia, and decreased urine volume in the last month. Two weeks before his admission presented overall headache, nausea and vomiting. She went to his local hospital where indicated treatment with ampicillin and gentamicin, on suspicion of acute pyelonephritis; but not observe improvement was transferred to our hospital. There were no important personal or family history, except her parents were consanguineous. On physical examination we found pallor, bilateral opacities in the lens, bilateral hearing loss and flapping. Laboratory tests showed anemia and azotemia (creatinine 15 mg/dL and urea 233 mg/dL). Urianalysis revealed tubular abnormalities, proteinuria and hematuria. Renal ultrasonography showed small kidneys. Ocular examination revealed nuclear polar cataract in her right eye and total cataract in the left eye. Audiometry revealed bilateral sensorineural hearing loss. (Rev Med Hered 2008;19:25-28).

Palabras llave: Alport; hematuria; hypoacusia; renal failure.