The 467th case: proteinuria, periungual fibromas, and facial steatadenomas
10.3760/cma.j.issn.0578-1426.2019.01.014
- VernacularTitle:临床病例讨论第467例——蛋白尿、甲沟纤维瘤、面部皮脂腺瘤
- Author:
Gang CHEN
1
;
Qianru DONG
;
Mingxi LI
;
Xuemei LI
Author Information
1. 中国医学科学院北京协和医学院北京协和医院肾内科 100730
- Keywords:
Hamartoma;
Tuberous sclerosis;
Nephrotic syndrome
- From:
Chinese Journal of Internal Medicine
2019;58(1):74-77
- CountryChina
- Language:Chinese
-
Abstract:
A 22-year-old manpresented as a refractory nephrotic syndrome with edema and proteinuria for more than one year. Physical examination revealed facial steatadenomas and periungual fibromas. Images were characterized by hamartomatous lesions in multiple organs, including the central nervous system, heart, lungs, liver, and kidneys. Gene tests verified TSC2 mutation and confirmed the diagnosis of tuberous sclerosis complex. The APOL1 mutation was positive in this patient, which indicated the possibility of steroid-resistant focal segmental glomerulonephritis. Thus, he was treated with sirolimus. Renal angiomyolipoma was shrunk, but proteinuria was not relieved (24h unine protein>10 g) and eventually led into renal insufficiency. Nondialytic therapy was initiated consequently. Losartan 50 mg/d was used to control proteinuria under the close watch of serum creatinine. A recent phone call on October 2018 failed to reachthe patient. Therefore, the follow-up information was not updated.
