Abstract
Raynaud-Claes sendromu oldukça nadir X’e bağlı dominant kalıtılan mental retardasyon sendromudur. Kromozom Xp22.2 ‘de yer alan CLCN4 geni tarafından kodlanan ClC-4 kanal proteini bir insan voltaja bağımlı bir 2Cl−/H+ değiştiricisidir. Bu çalışmada aynı aileden üç hastada Raynaud-Claes sendromu tansı konuldu. Erkek hasta; altı yaşında olup hastada zeka geriliği, dismorfizm ve epileptik ensefalopati bulguları vardır Tüm Ekzom Dizileme ile hemizygous missense variant NM_001830.4: c.1597G>A (p.V533M) saptanmıştır. Olgunun annesi ve bir kız kardeşi de aynı varyantı taşıdığı tespit edilmiştir. Erkek olgunun kliniği belirgin şekilde daha ağır olup hastamızda non-convulsive status izlendi. Benzadiazepin infüzyonu ile tonik status gözlendi ve ketojenik diyet ile başarılı bir şekilde tedavi edildi. Hastamız Ketojenik diyetin sekizinci ayında olup nöbetsiz olarak izlenmektedir. Raynaud Claess sendromunda bir çok nöbet tipinin eşlik ettiği hayatı tehdit edici nöbetler gözlenebilir. Benzodiazepin ile tonik nöbet artışı görülen hastalarda CLCN4 variantlarının araştırılması önerilir. Bununla birlikte CLCN4 kaynaklı dirençli epilepsilerde ön planda ketojenik diyet tedavisinin denenmesi hayat kurtarıcı olabilir
Keywords
References
- 1. He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, et al. The molecular and phenotypic spectrum of CLCN4-related epilepsy. Epilepsia. 2021;62(6):1401-1415. 2. Xu X, Lu F, Zhang L, Li H, Du S, Tang J. Novel CLCN4 variant associated withsyndromic X-linked intellectual disability in a Chinese girl: a case report. BMC Pediatr. 2021;3;21(1):384.
- 2. Weinert S, Gimber N, Deuschel D et al. Uncouplingendosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO J. 2020;4;39(9):e103358.
- 3. Zhou P, He N, Zhang JW et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456.
- 4. Archila R, Papazian O. Síndrome de Lennox-Gastaut [Lennox-Gastaut syndrome]. Rev Neurol. 1999;16-31;29(4):346-9. 5. Accardi A, Miller C. Secondary active transport mediated by a prokaryotichomologue of ClC Cl- channels. Nature. 2004:26; 427 (6977) :803-7.
Abstract
References
- 1. He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, et al. The molecular and phenotypic spectrum of CLCN4-related epilepsy. Epilepsia. 2021;62(6):1401-1415. 2. Xu X, Lu F, Zhang L, Li H, Du S, Tang J. Novel CLCN4 variant associated withsyndromic X-linked intellectual disability in a Chinese girl: a case report. BMC Pediatr. 2021;3;21(1):384.
- 2. Weinert S, Gimber N, Deuschel D et al. Uncouplingendosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO J. 2020;4;39(9):e103358.
- 3. Zhou P, He N, Zhang JW et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456.
- 4. Archila R, Papazian O. Síndrome de Lennox-Gastaut [Lennox-Gastaut syndrome]. Rev Neurol. 1999;16-31;29(4):346-9. 5. Accardi A, Miller C. Secondary active transport mediated by a prokaryotichomologue of ClC Cl- channels. Nature. 2004:26; 427 (6977) :803-7.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Sözlü Bildiriler |
| Authors | |
| Publication Date | June 30, 2022 |
| Submission Date | February 10, 2022 |
| Acceptance Date | March 10, 2022 |
| Published in Issue | Year 2022 Volume: 15 Issue: (Özel Sayı-1) 21. Mersin Pediatri Günleri Bildiri Kitabı |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
Publishing in three issues per year (April - August - December), it is a multisectoral refereed scientific journal. In addition to research articles, scientific articles such as reviews, case reports and letters to the editor are published in the journal. Our journal, which has been published via e-mail since its inception, has been published both online and in print. Following the Participation Agreement signed with TÜBİTAK-ULAKBİM Dergi Park in April 2015, it has started to accept and evaluate online publications.
Mersin University Journal of Health Sciences have been indexed by Turkey Citation Index since November 16, 2011.
Mersin University Journal of Health Sciences have been indexed by ULAKBIM Medical Database from the first issue of 2016.
Mersin University Journal of Health Sciences have been indexed by DOAJ since October 02, 2019.
Article Publishing Charge Policy: Our journal has adopted an open access policy and there is no fee for article application, evaluation, and publication in our journal. All the articles published in our journal can be accessed from the Archive free of charge.
This work is licensed with Attribution-NonCommercial 4.0 International.