A case of obesity related glomerulopathy complicated with Alport syndrome

 

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A case of obesity related glomerulopathy complicated with Alport syndrome

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xiaojuan
Yang
zhi An 786236166@qq.com Affiliated Hospital of Yan'an University Nephrology Department yanan China -
qiaoyan He 786236166@qq.com Affiliated Hospital of Yan'an University Nephrology Department yanan China -
ruoyue Bai 786236166@qq.com Affiliated Hospital of Yan'an University Nephrology Department yanan China -
xiaojuan Yang 786236166@qq.com Affiliated Hospital of Yan'an University Nephrology Department yanan China *
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The patient, a 30-year-old female, was admitted to the hospital in December 2024 with a chief complaint of "abnormal urinalysis for more than a year." She had been diagnosed with polycystic ovary syndrome through previous examinations and had a history of induced abortions and miscarriages. Her marital and reproductive history, as well as her personal and family medical history, were unremarkable. Physical examination revealed no signs of edema in the eyelids or facial area, and there were no abnormal findings in the examination of the heart, lungs, and abdomen.

Urinalysis: Red blood cells: 61.0/μL , Glucose: 3+, Occult blood: 1+, Protein: 2+; Renal function and electrolytes: Serum uric acid: 541umol/L, total cholesterol: 6.42 mmol/L, serum triglycerides: 13.57mmol/L; Urine protein quantification: 3027.6mg/24h; Glycosylated hemoglobin: 7.7%; OGTT test abnormal; Visual and auditory examinations normal.

Pathological findings: Light microscopy: 9 glomeruli were observed , 2 glomeruli showed segmental sclerosis.A few glomeruli were enlarged .Mild segmental proliferation of mesangial cells and matrix.Tubular dilation and focal atrophy (atrophy area of ~5%).Occasional foam cell infiltration.Mild thickening of the arterial wall with segmental hyalinization.Immunofluorescence: α3 glomerular basement membrane and renal tubular basement membrane show segmental reduction in expression.Electron microscopy: Basement membranes: some areas are thinner (about 60%), with a thickness less than 250nm, while the thickest areas reach up to 350nm.Genetic test results: The c.4464G>C mutation in the COL4A4 gene is classified as a variant of uncertain significance.

Diagnosis :1. Alport syndrome 2. Obesity-related kidney disease 3. Metabolic syndrome   Obesity   Type 2 diabetes   Mixed hyperlipidemia 4. Hyperuricemia 5. Fatty liver disease 6. Pulmonary Nodules 7. Polycystic Ovary Syndrome.Treatment methods 1. Weight reduction 2. Metformin, dapagliflozin, sacubitril/valsartan, atorvastatin calcium, febuxostat.

The clinical outcome is monitored with a 24-hour urinary protein quantification of  0.1g~0.4g, with a current BMI of  29kg/m², blood pressure of  120/80mmHg, fasting blood glucose of  5-6mmol/L.

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