Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report

被引:0
作者
Ko, Yun Jung [1 ]
Rhie, Seonkyeong [2 ]
Baek, Jihyun [1 ]
Seo, Go Hun [3 ]
Lee, So-Young [1 ]
机构
[1] CHA Univ, CHA Bundang Med Ctr, Dept Internal Med, Seongnam, South Korea
[2] CHA Univ, CHA Bundang Med Ctr, Dept Paediat, Seongnam, South Korea
[3] 3billion Inc, Seoul, South Korea
基金
新加坡国家研究基金会;
关键词
Focal segmental glomerulosclerosis; WT1; gene; Missense mutation;
D O I
10.47391/JPMA.8251
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Focal segmental glomerulosclerosis (FSGS) can cause proteinuria and loss of kidney function, leading to endstage renal disease (ESRD). Podocyte injury is the central pathophysiological mechanism of hereditary FSGS. Numerous mutations in genes encoding or affecting the transcriptional regulation of podocyte cell compartments have been detected in patients with genetic FSGS. Herein, we report a rare case of familial FSGS with an autosomal dominant WT1 mutation. A 63-year-old man developed proteinuria; his reading showed over 1g protein/day. A pathological diagnosis of FSGS was made after renal biopsy. His elder brother and a 36-year-old son also had c.1373G>A (p.Arg458Gln) missense was detected in the patient and his son, by whole-exome sequencing. Although genetic screening is not a part of routine practice, it should be performed in such cases to aid appropriate treatment options selecting, revealing extrarenal symptoms, and family planning.
引用
收藏
页码:149 / 152
页数:4
相关论文
共 11 条
  • [1] Activation of podocyte Notch mediates early Wt1 glomerulopathy
    Asfahani, Rowan I.
    Tahoun, Mona M.
    Miller-Hodges, Eve V.
    Bellerby, Jack
    Virasami, Alex K.
    Sampson, Robert D.
    Moulding, Dale
    Sebire, Neil J.
    Hohenstein, Peter
    Scambler, Peter J.
    Waters, Aoife M.
    [J]. KIDNEY INTERNATIONAL, 2018, 93 (04) : 903 - 920
  • [2] Chen Rui, 2015, Cold Spring Harb Protoc, V2015, P626, DOI 10.1101/pdb.prot083659
  • [3] Focal segmental glomerulosclerosis: molecular genetics and targeted therapies
    Chen, Ying Maggie
    Liapis, Helen
    [J]. BMC NEPHROLOGY, 2015, 16
  • [4] Epigenetic transcriptional reprogramming by WT1 mediates a repair response during podocyte injury
    Ettou, Sandrine
    Jung, Youngsook L.
    Miyoshi, Tomoya
    Jain, Dhawal
    Hiratsuka, Ken
    Schumacher, Valerie
    Taglienti, Mary E.
    Morizane, Ryuji
    Park, Peter J.
    Kreidberg, Jordan A.
    [J]. SCIENCE ADVANCES, 2020, 6 (30):
  • [5] A Novel Missense Mutation of Wilms' Tumor 1 Causes Autosomal Dominant FSGS
    Hall, Gentzon
    Gbadegesin, Rasheed A.
    Lavin, Peter
    Wu, Guanghong
    Liu, Yangfan
    Oh, Edwin C.
    Wang, Liming
    Spurney, Robert F.
    Eckel, Jason
    Lindsey, Thomas
    Homstad, Alison
    Malone, Andrew F.
    Phelan, Paul J.
    Shaw, Andrey
    Howell, David N.
    Conlon, Peter J.
    Katsanis, Nicholas
    Winn, Michelle P.
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2015, 26 (04): : 831 - 843
  • [6] Genome-Wide Analysis of Wilms' Tumor 1-Controlled Gene Expression in Podocytes Reveals Key Regulatory Mechanisms
    Kann, Martin
    Ettou, Sandrine
    Jung, Youngsook L.
    Lenz, Maximilian O.
    Taglienti, Mary E.
    Park, Peter J.
    Schermer, Bernhard
    Benzing, Thomas
    Kreidberg, Jordan A.
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2015, 26 (09): : 2097 - 2104
  • [7] Lipska-Zietkiewicz BS., 1993, GeneReviews
  • [8] Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type
    Nishi, Kentaro
    Inoguchi, Tomohiro
    Kamei, Koichi
    Hamada, Riku
    Hataya, Hiroshi
    Ogura, Masao
    Sato, Mai
    Yoshioka, Takako
    Ogata, Kentaro
    Ito, Shuichi
    Nakanishi, Koichi
    Nozu, Kandai
    Hamasaki, Yuko
    Ishikura, Kenji
    [J]. CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2019, 23 (08) : 1058 - 1065
  • [9] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    Richards, Sue
    Aziz, Nazneen
    Bale, Sherri
    Bick, David
    Das, Soma
    Gastier-Foster, Julie
    Grody, Wayne W.
    Hegde, Madhuri
    Lyon, Elaine
    Spector, Elaine
    Voelkerding, Karl
    Rehm, Heidi L.
    [J]. GENETICS IN MEDICINE, 2015, 17 (05) : 405 - 424
  • [10] Executive summary of the KDIGO 2021 Guideline for the Management of Glomerular Diseases
    Rovin, Brad H.
    Adler, Sharon G.
    Barratt, Jonathan
    Bridoux, Frank
    Burdge, Kelly A.
    Chan, Tak Mao
    Cook, H. Terence
    Fervenza, Fernando C.
    Gibson, Keisha L.
    Glassock, Richard J.
    Jayne, David R. W.
    Jha, Vivekanand
    Liew, Adrian
    Liu, Zhi-Hong
    Mejia-Vilet, Juan M.
    Nester, Carla M.
    Radhakrishnan, Jai
    Rave, Elizabeth M.
    Reich, Heather N.
    Ronco, Pierre
    Sanders, Jan-Stephan F.
    Sethi, Sanjeev
    Suzuki, Yusuke
    Tang, Sydney C. W.
    Tesar, Vladimir
    Vivarelli, Marina
    Wetzels, Jack F. M.
    Lytvyn, Lyubov
    Craig, Jonathan C.
    Tunnicliffe, David J.
    Howell, Martin
    Tonelli, Marcello A.
    Cheung, Michael
    Earley, Amy
    Floege, Jurgen
    [J]. KIDNEY INTERNATIONAL, 2021, 100 (04) : 753 - 779