Severe nephrotic syndrome and early end-stage diabetic kidney disease in ABCC8-MODY12: A case report

被引：0

作者：

Schmidt, Sophie H. H. ^{[1
,2
]}

Barnas, Ursula ^{[3
]}

Aigner, Christof ^{[1
]}

Wolf, Peter ^{[4
]}

Kozakowski, Nicolas ^{[5
]}

Kain, Renate ^{[5
]}

Scherer, Thomas ^{[4
]}

Schmidt, Alice ^{[1
]}

Sunder-Plassmann, Gere ^{[1
]}

机构：

[1] Med Univ Vienna, Dept Med 3, Div Nephrol & Dialysis, Vienna, Austria

[2] Sigmund Freud Univ, Med Sch, Vienna, Austria

[3] Vienna Healthcare Grp, Dept Med 1, Clin Landstr, Vienna, Austria

[4] Med Univ Vienna, Dept Med 3, Div Endocrinol & Metab, Vienna, Austria

[5] Med Univ Vienna, Dept Pathol, Vienna, Austria

来源：

FRONTIERS IN GENETICS | 2023年 / 14卷

关键词：

ABCC8; gene; MODY; diabetes mellitus; end-stage kidney disease; nodular glomerulosclerosis; sulfonylurea; case report;

D O I：

10.3389/fgene.2023.1132772

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 24-year-old man with diabetes mellitus presented with advanced kidney disease and severe proteinuria. Genetic testing revealed ABCC8-MODY12 (OMIM 600509), and a kidney biopsy showed nodular glomerulosclerosis. He commenced dialysis shortly thereafter, and glycemic control improved on treatment with a sulfonylurea. Diabetic end-stage kidney disease in patients with ABCC8-MODY12 has not been reported until now. Thus, our case highlights the risk for early-onset and severe diabetic kidney disease in patients with ABCC8-MODY12 and the importance of timely genetic diagnosis in unusual cases of diabetes to allow for proper treatment and prevention of late sequelae of diabetes.

引用

页数：4

共 50 条

[21] End-stage kidney at the onset of nephrotic syndrome in a 4-year-old girl
Nakahata, T
Tanaka, H
Tsuruga, K
Shimada, J
Tsugawa, K
Suzuki, K
Onodera, N
Ito, E
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 200 (03): : 151 - 154
[22] Competing Risk of Death With End-Stage Renal Disease in Diabetic Kidney Disease
Jiang, Yue
Fine, Jason P.
Mottl, Amy K.
ADVANCES IN CHRONIC KIDNEY DISEASE, 2018, 25 (02) : 133 - 140
[23] TacrolimusDeterioration of acute kidney injury leading to end-stage renal disease: case report
Reactions Weekly, 2020, 1792 (1) : 214 - 214
[24] Robotic Kidney Transplantation in an Athlete With End-stage Renal Disease. A Case Report
Frongia, Mauro
Solinas, Andrea
Cadoni, Rossano
Malloci, Stefano
TRANSPLANTATION DIRECT, 2020, 6 (03): : E538
[25] Medical nephrectomy in children with end-stage renal disease due to nephrotic syndrome
Vos, Eefke
Schreuder, Michiel M. F.
Koster-Kamphuis, Linda L.
van de Kar, Nicole N. C. A. J.
Bootsma-Robroeks, Charlotte C. M. H. H. T.
Cornelissen, Marlies E. A. M.
PEDIATRIC TRANSPLANTATION, 2019, 23
[26] Cinacalcet for Severe Secondary Hyperparathyroidism in Children with End-stage Kidney Disease
Sheerah, Areej
Al-Ahmed, Rafif
El-Desoky, Sherif
Alhasan, Khalid
Albanna, Amr
Shalaby, Mohamed
Kari, Jameela
SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION, 2021, 32 (06) : 1628 - 1636
[27] Early-onset type 2 diabetes: a high risk for end-stage kidney disease in patients with diabetic kidney disease
Zheng, Li
Chen, Xiangjun
Hu, Jinbo
Zeng, Qianna
Gong, Lilin
Ran, Xi
Lv, Xinlu
Tang, Ying
Zhao, Qinying
Zhou, Yangmei
Luo, Wenjin
Wang, Yue
Li, Qifu
Wang, Zhihong
DIABETES-METABOLISM RESEARCH AND REVIEWS, 2019, 35
[28] Antineoplastics/tacrolimusWorsening of end-stage kidney disease and liver disease leading to end-stage kidney disease requiring dialysis and acute liver failure, and impaired renal function: case report
Reactions Weekly, 2020, 1831 (1) : 53 - 53
[29] Treatment of End-Stage Coronary Artery Disease with the Mode of Combination of Disease and Syndrome: A Case Report
BAI Rui-na
WANG Pei-li
GU Feng
TAN Juan
WANG Cheng-long
CHEN Ke-ji
Chinese Journal of Integrative Medicine , 2021, (06) : 461 - 464
[30] Treatment of End-Stage Coronary Artery Disease with the Mode of Combination of Disease and Syndrome: A Case Report
Rui-na Bai
Pei-li Wang
Feng Gu
Juan Tan
Cheng-long Wang
Ke-ji Chen
Chinese Journal of Integrative Medicine, 2021, 27 : 461 - 464

← 1 2 3 4 5 →