Once-daily low-dose cyclosporine A treatment for steroid-resistant nephrotic syndrome in a patient with Galloway-Mowat syndrome: A case report-Reference-Cited by-同舟云学术

Once-daily low-dose cyclosporine A treatment for steroid-resistant nephrotic syndrome in a patient with Galloway-Mowat syndrome: A case report

Published:2022 Issue:2 Volume:35 Page:125-132
ISSN:0915-2245
Container-title:Japanese journal of pediatric nephrology
language:en
Short-container-title:Nihon Shoni Jinzobyo Gakkai Zasshi

Author:

Nakamizo Tomoya¹,Tada Norimasa¹,Udagawa Tomohiro²,Kikuchi Eriko³,Kamei Koichi⁴,Mori Takayasu⁵,Sohara Eisei⁵,Matsuoka Kentaro⁶,Shirai Kentaro¹,Watanabe Akimitsu¹

Affiliation:

1. Department of Pediatric, Tsuchiura Kyodo General Hospital

2. Department of Pediatric, Tokyo Medical and Dental University Hospital

3. Department of Pediatric, Nerima Hikarigaoka Hospital

4. Division of Nephrology and Rheumatology, National Center for Child Health and Development

5. Department of Nephrology, Tokyo Medical and Dental University Hospital

6. Department of Pathology, Tokyo Metropolitan Children’s Medical Center

Publisher

Japanese Society for Pediatric Nephrology

Subject

Literature and Literary Theory,History,Cultural Studies

Link

https://www.jstage.jst.go.jp/article/jjpn/35/2/35_cr.2022.0206/_pdf

Reference34 articles.

1. 1） Galloway WH, Mowat AP: Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet 1968; 5: 319–321.

2. 2） Ekstrand JJ, Friedman AL, Stafstrom CE: Galloway-Mowat syndrome: Neurologic features in two sibling pairs. Pediatr Neurol 2012; 47: 129–132.

3. 3） Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferré M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C: Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet 2014; 95: 637–648.

4. 4） Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E: Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature. BMC Nephrol 2019; 20: 126.

5. 5） Treimer E, Niedermayer K, Schumann S, Zenker M, Schmeisser MJ, Kühl SJ: Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis. Gene Expr Patterns 2021; 42: 119215.