1型神经纤维瘤病患者的C1q肾病：一例罕见病例报告

Varyani U T, Shah N M, Shah P R, Kute V B, Balwani M R, Trivedi H L

Department of Nephrology and Transplantation Medicine, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre - Dr. H.L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.

Department of Nephrology, Jawaharlal Nehru Medical College, Sawangi, Wardha, Maharashtra, India.

Indian J Nephrol. 2019 Mar-Apr;29(2):125-127. doi: 10.4103/ijn.IJN_353_17.

C1q nephropathy is a rare glomerular disease defined by the presence of characteristic mesangial dominant or codominant C1q deposition on immunofluorescence microscopy. Neurofibromatosis type 1 (NF-1) is an autosomal dominant syndrome caused by a mutation of a gene located on chromosomal segment 17q11.2. Nephrotic syndrome has rarely been reported in patients of NF-1, and the relation of NF-1 with nephrotic syndrome is unclear. Here, we present a rare case of C1q nephropathy in a patient of NF-1.

C1q肾病是一种罕见的肾小球疾病，其定义为在免疫荧光显微镜下存在特征性的系膜为主或共显性C1q沉积。1型神经纤维瘤病（NF-1）是一种常染色体显性综合征，由位于染色体17q11.2区段的基因突变引起。NF-1患者很少有肾病综合征的报道，且NF-1与肾病综合征的关系尚不清楚。在此，我们报告1例NF-1患者发生C1q肾病的罕见病例。