Wisit Cheungpasitporn *,Quanhathai Kaewpoowat ,Promporn Suksaranjit ,Wonngarm Kittanamongkolchai ,Narat Srivali ,Patompong Ungprasert ,Yashaswini Rangan
A 19-year-old Caucasian male presented to Nephrology Clinic for evaluation of proteinuria. He denied any hearing or vision impairment. The patient reported significant family history for kidney problem in his father, paternal uncle, paternal aunts and his half brother who shared the same father. Physical examination revealed a blood pressure of 136/60 mmHg with no peripheral edema. Laboratory evaluation disclosed a serum creatinine of 0.7 mg/dl, 24-hour urine protein of 2.4 g and serum albumin of 3.7 g/dl. Urinalysis demonstrated dysmorphic red blood cells. A renal biopsy revealed the diagnosis of Alport syndrome. From his paternal family history, the disease was transmitted by autosomal dominant inheritance. The diagnosis of autosomal dominant Alport syndrome was made. He was prescribed lisinopril 5 mg per day. Referrals with Ophthalmology and Audiology were performed with showed no evidences of extrarenal involvement. At follow-up, 3 months later, patient continued to do well with serum creatinine of 0.7 mg/dl and urine protein-to-creatinine ratio of 1.75.
Alport syndrome is most commonly transmitted in an X-linked manner (80% of cases). Autosomal dominant transmission is rare and only accounts for 5% of affected patients. Extrarenal manifestations include hearing loss and ocular defects. Although the presence of these defects should prompt a search for Alport syndrome, patients with autosomal dominant Alport syndrome may present without these manifestations.
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