Hereditary Proteinuric Glomerular Disorders
A 26-year-old male first manifested asymptomatic proteinuria at age 16 years at a regular checkup. Because of persistent proteinuria, he was referred for a consultation with a nephrologist. Urinalysis by dipstick showed grade 3+ proteinuria (1.2 g/g creatinine) with no occult blood. Urinary sediment analysis revealed 1–5 red blood cells and no white blood cells per high-power field. His blood pressure was 107/56 mmHg. He had a sensorineural hearing disability on the left side. On physical examination, his height was 174 cm, weight 52.7 kg, and body mass index 17.4. He did not show any abnormalities in muscle or neurologic functions. There was no apparent peripheral edema or swelling in the lymph nodes or tonsils. The skin and joints appeared normal.
KeywordsGlomerular disease Proteinuria Nephrtoic syndrome Podocyte Actin cytoskeleton
The author is grateful to Drs. Tatsuyo Takahashi and Masataka Miyoshi (Ajisu Kyoritsu Hospital, Japan) for referral of the patients and to Drs. Naoya Morisada and Kazutomo Iijima for the sequencing analysis. The author would also like to thank Dr. Satoshi Hisano (Department of Pathology, Faculty of Medicine, Fukuoka University) for the preparation of the renal pathology specimens and diagnosis.
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