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Fibronectin Glomerulopathy: A Rare Autosomal Dominant Glomerular Disease

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A 43‐year‐old female was admitted to the Department of Nephrology at Jinling Hospital (Nanjing, China) in January 2017 complaining of edema for 3 months with urine abnormalities. Her father had… Click to show full abstract

A 43‐year‐old female was admitted to the Department of Nephrology at Jinling Hospital (Nanjing, China) in January 2017 complaining of edema for 3 months with urine abnormalities. Her father had renal disease (with no biopsy performed) when he was 40 years old and died of uremia at 56 years old. Her mother and brother were healthy; however, her daughter and nephew (her brother’s son) had slightly high microalbumin levels in routine urine screenings. Her daughter’s urinary protein level was weakly positive, whereas her nephew’s urinary protein level was negative. At admission, the patient had a normal mental status. Her height, weight, body temperature, pulse, and respiratory rate were 154 cm, 49.4 kg, 36.2°C, 95 beats/min, and 15 breaths/min, respectively, and her blood pressure was 127/96 mmHg. Her daily urinary protein, serum albumin, blood urea nitrogen, creatinine, and estimated glomerular filtration rate levels were 2.67 g/day, 40.4 g/L, 12.6 mg/dl, 0.61 mg/dl, and 111.38 ml·min−1·1.73 m−2, respectively. The following blood tests were also performed: liver function tests; blood lipid levels; immunoglobulin (IG) G (IgG), IgM, IgA, antistreptolysin O, rheumatoid factor, complement C3 and complement C4 levels; testing for the presence of antinuclear antibodies (ANAs), anti‐double stranded‐DNA antibodies, anti‐phospholipase A2 receptor antibodies, c‐anti‐neutrophil cytoplasmic antibodies, and p‐anti‐neutrophil cytoplasmic antibodies; the ratio of blood monospecific free light chain; immunoassay electrophoresis; and hepatitis B and C serology. A renal ultrasound indicated that the kidney size was normal. An ANA spectrum indicated RO‐52+++, and other tests such as for anti‐SSA antibody and anti‐SSB antibody were negative.

Keywords: fibronectin glomerulopathy; urinary protein; glomerulopathy rare; disease; rare autosomal; antibodies anti

Journal Title: Chinese Medical Journal
Year Published: 2017

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