Immunoglobulin A Nephropathy in a Kidney Transplant Recipient with Kabuki Syndrome: A Case Report

被引:0
作者
Shinzato, Takahiro [1 ]
Nagai, Kojiro [1 ]
Hoshino, Yuuki [1 ]
Fujiwara, Yuuichi [1 ]
Yamamoto, Yoshihiro [1 ]
Morishita, Azusa [1 ]
Okawa, Takao [1 ]
Ito, Kenta [1 ]
Murakami, Masaaki [1 ]
Matsuo, Ken [1 ]
Tanaka, Satoshi [1 ]
Mori, Kiyoshi [1 ]
机构
[1] Shizuoka Prefectural Gen Hosp, Dept Nephrol, Shizuoka, Japan
关键词
Kabuki syndrome; immunoglobulin A nephropathy; kidney transplant; STEROID PULSE THERAPY; IGA NEPHROPATHY; ADULT PATIENT; TONSILLECTOMY; PATHOGENESIS; GENETICS; UPDATE; KDM6A;
D O I
10.2169/internalmedicine.4832-24
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Kabuki syndrome is a rare genetic disorder that causes multiple congenital anomalies, including characteristic facial features reminiscent of Kabuki syndrome. It is often associated with congenital anomalies of the kidneys and urinary tract as well as immune abnormalities. While various autoimmune diseases have been reported in patients with this syndrome, only one case of membranoproliferative glomerulonephritis has been documented. We herein report a case of Kabuki syndrome in which immunoglobulin A nephropathy developed in a renal allograft, which subsequently improved with the administration of pulse steroids and an angiotensin II receptor blocker.
引用
收藏
页数:7
相关论文
共 45 条
  • [1] Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)
    Banka, S.
    Lederer, D.
    Benoit, V.
    Jenkins, E.
    Howard, E.
    Bunstone, S.
    Kerr, B.
    McKee, S.
    Lloyd, I. C.
    Shears, D.
    Stewart, H.
    White, S. M.
    Savarirayan, R.
    Mancini, G. M. S.
    Beysen, D.
    Cohn, R. D.
    Grisart, B.
    Maystadt, I.
    Donnai, D.
    [J]. CLINICAL GENETICS, 2015, 87 (03) : 252 - 258
  • [2] Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
    Bianchi, Chloe
    Margot, Henri
    Fernandes, Helder
    Pasquet, Marlene
    Priqueler, Laurence
    Roy-Peaud, Frederique
    Bauduer, Frederic
    Bayart, Sophie
    Garnier, Nathalie
    Fain, Olivier
    Van Gils, Julien
    Joly, Sandrine Baron
    Rialland, Fanny
    Paillard, Catherine
    Deparis, Marianna
    Lambilliotte, Anne
    Leblanc, Thierry
    Fahd, Mony
    Leverger, Guy
    Heritier, Sebastien
    Genevieve, David
    Rieux-Laucat, Frederic
    Picard, Capucine
    Neyraud, Caroline
    Aladjidi, Nathalie
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (05) : 1899 - 1907
  • [3] Unmasking Kabuki syndrome
    Boegershausen, N.
    Wollnik, B.
    [J]. CLINICAL GENETICS, 2013, 83 (03) : 201 - 211
  • [4] Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
    Boegershausen, Nina
    Gatinois, Vincent
    Riehmer, Vera
    Kayserili, Huelya
    Becker, Jutta
    Thoenes, Michaela
    Simsek-Kiper, Pelin OEzlem
    Barat-Houari, Mouna
    Elcioglu, Nursel H.
    Wieczorek, Dagmar
    Tinschert, Sigrid
    Sarrabay, Guillaume
    Strom, Tim M.
    Fabre, Aurelie
    Baynam, Gareth
    Sanchez, Elodie
    Nuernberg, Gudrun
    Altunoglu, Umut
    Capri, Yline
    Isidor, Bertrand
    Lacombe, Didier
    Corsini, Carole
    Cormier-Daire, Valerie
    Sanlaville, Damien
    Giuliano, Fabienne
    Le Quan Sang, Kim-Hanh
    Kayirangwa, Honorine
    Nuernberg, Peter
    Meitinger, Thomas
    Boduroglu, Koray
    Zoll, Barbara
    Lyonnet, Stanislas
    Tzschach, Andreas
    Verloes, Alain
    Di Donato, Nataliya
    Touitou, Isabelle
    Netzer, Christian
    Li, Yun
    Genevieve, David
    Yigit, Goekhan
    Wollnik, Bernd
    [J]. HUMAN MUTATION, 2016, 37 (09) : 847 - 864
  • [5] Clinical course and management of adult-onset immune-mediated cytopenia associated with Kabuki syndrome
    Cantoni, Silvia
    Fattizzo, Bruno
    [J]. EUROPEAN JOURNAL OF INTERNAL MEDICINE, 2019, 69 : E3 - E5
  • [6] Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
    Courcet, Jean-Benoit
    Faivre, Laurence
    Michot, Caroline
    Burguet, Antoine
    Perez-Martin, Stephanie
    Alix, Eudeline
    Amiel, Jeanne
    Baumann, Clarisse
    Cordier, Marie-Pierre
    Cormier-Daire, Valerie
    Delrue, Marie Ange
    Gilbert-Dussardier, Brigitte
    Goldenberg, Alice
    Jacquemont, Marie-Line
    Jaquette, Aurelia
    Kayirangwa, Honorine
    Lacombe, Didier
    Le Merrer, Martine
    Toutain, Annick
    Odent, Sylvie
    Moncla, Anne
    Pelet, Anna
    Philip, Nicole
    Pinson, Lucille
    Poisson, Sylvain
    Kim-Han, Le Quan Sang
    Roume, Joelle
    Sanchez, Elodie
    Willems, Marjolaine
    Till, Marianne
    Vincent-Delorme, Catherine
    Mousson, Christiane
    Vinault, Sandrine
    Binquet, Christine
    Huet, Frederic
    Sarda, Pierre
    Salomon, Remi
    Lyonnet, Stanislas
    Sanlaville, Damien
    Genevieve, David
    [J]. JOURNAL OF PEDIATRICS, 2013, 163 (03) : 742 - 746
  • [7] Does angiotensin blockade influence graft outcome in renal transplant recipients with IgA nephropathy?
    Courtney, Aisling E.
    McNamee, Peter T.
    Nelson, William E.
    Maxwell, Alexander Peter
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2006, 21 (12) : 3550 - 3554
  • [8] Congenital heart defects in molecularly proven Kabuki syndrome patients
    Digilio, Maria Cristina
    Gnazzo, Maria
    Lepri, Francesca
    Dentici, Maria Lisa
    Pisaneschi, Elisa
    Baban, Anwar
    Passarelli, Chiara
    Capolino, Rossella
    Angioni, Adriano
    Novelli, Antonio
    Marino, Bruno
    Dallapiccola, Bruno
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (11) : 2912 - 2922
  • [9] Ewart-Toland A, 1998, AM J MED GENET, V80, P362, DOI 10.1002/(SICI)1096-8628(19981204)80:4<362::AID-AJMG11>3.0.CO
  • [10] 2-W