Alkaptonuria with IgA nephropathy: a case report and literature review
10.3760/cma.j.cn441217-20221222-01228
- VernacularTitle:尿黑酸尿症伴IgA肾病1例并文献复习
- Author:
Yingxin RUAN
1
;
Tiekun YAN
;
Jianqing JIANG
;
Junya JIA
Author Information
1. 天津医科大学总医院肾内科，天津 300052
- Keywords:
Alkaptonuria;
Glomerulonephritis, IgA;
Homogentisic acid;
Homogentisate 1, 2-dioxygenase gene
- From:
Chinese Journal of Nephrology
2023;39(8):624-627
- CountryChina
- Language:Chinese
-
Abstract:
The paper reports a rare case of alkaptonuria (AKU) with IgA nephropathy, and analyzes its clinical manifestations, imaging findings, pathological features, gene diagnosis and treatment process, so as to provide reference for the diagnosis and treatment of the disease. The clinical symptoms of the patient were mainly black urine, microscopic hematuria and proteinuria. Renal pathology showed mild mesangial hyperplasia IgA nephropathy, and renal tubular epithelial cytochrome deposition. Genetic analysis indicated that a pathogenic mutation was detected on the AKU-related homogentisate 1, 2-dioxygenase gene possibly associated with the phenotype of the patient. Genetic testing and renal pathology were effective methods to make a definite diagnosis for the case.
