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

来源：

INTERNAL MEDICINE | 2025年

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

页数：7

共 45 条

[1] Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2) [J].

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. .

CLINICAL GENETICS, 2015, 87 (03) :252-258

[2] Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients [J].

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 .

BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (05) :1899-1907

[3] Unmasking Kabuki syndrome [J].

Boegershausen, N. ;

Wollnik, B. .

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 [J].

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 .

HUMAN MUTATION, 2016, 37 (09) :847-864

[5] Clinical course and management of adult-onset immune-mediated cytopenia associated with Kabuki syndrome [J].

Cantoni, Silvia ;

Fattizzo, Bruno .

EUROPEAN JOURNAL OF INTERNAL MEDICINE, 2019, 69 :E3-E5

[6] Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome [J].

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 .

JOURNAL OF PEDIATRICS, 2013, 163 (03) :742-746

[7] Does angiotensin blockade influence graft outcome in renal transplant recipients with IgA nephropathy? [J].

Courtney, Aisling E. ;

McNamee, Peter T. ;

Nelson, William E. ;

Maxwell, Alexander Peter .

NEPHROLOGY DIALYSIS TRANSPLANTATION, 2006, 21 (12) :3550-3554

[8] Congenital heart defects in molecularly proven Kabuki syndrome patients [J].

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 .

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

← 1 2 3 4 5 →