Rana Akshaya, Tayade Surekha
Department of Obstetrics and Gynaecology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Sep 11;16(9):e69187. doi: 10.7759/cureus.69187. eCollection 2024 Sep.
Alport syndrome (AS) is a rare, progressive hereditary kidney disease characterized by sensorineural hearing loss and visual abnormalities. It is caused by a mutation in the collagen type IV alpha-4 (COL4A4) gene, which produces type IV collagen, and often manifests in individuals with hematuria, proteinuria, edema, and hypertension. Here, we present a case of AS in a 15-year-old boy with a COL4A4 gene mutation, with renal and extrarenal findings. The patient presented with subnephrotic proteinuria and microscopic hematuria, autoimmune hypothyroidism, and keratoconus. Light microscopy examination of renal biopsy revealed three globally sclerosed renal cortical parenchyma areas with periglomerular fibrosis, and electron microscopy showed variable thickness of glomerular basement membrane with festooned appearance, as well as splitting of lamina densa giving basket weave and criss-cross pattern.
奥尔波特综合征（AS）是一种罕见的、进行性遗传性肾脏疾病，其特征为感音神经性听力损失和视觉异常。它由IV型胶原α-4（COL4A4）基因突变引起，该基因产生IV型胶原，常表现为血尿、蛋白尿、水肿和高血压的个体。在此，我们报告一例15岁男孩患有COL4A4基因突变的AS病例，伴有肾脏和肾外表现。患者表现为亚肾病范围蛋白尿和镜下血尿、自身免疫性甲状腺功能减退症和圆锥角膜。肾活检的光镜检查显示三个全层硬化的肾皮质实质区域伴肾小球周围纤维化，电镜显示肾小球基底膜厚度不一，呈花彩状外观，以及致密层分裂呈篮状编织和十字交叉图案。
