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Journals / Bakırköy Tıp Dergisi / 2009 / Cilt: 5 - Sayı: 3

Voltage dependent calcium channel mutation in a Turkish patient with hypokalemic periodic paralysis, R1239H: Case report

Hipokalemik periyodik paralizili bir Türk hastada voltaj bağımlı kalsiyum kanal mutasyonu, R1239H: Olgu sunumu

Onur SAKALLIOĞLU
Faysal GÖK
Halil İbrahim AYDIN
Süleyman KALMAN
Sabahattin VURUCU
Pages
120–122
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This boy is the first case of HPP in whom CACNA1S mutation is reported from Turkey.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Hypokalemic periodic paralysis (HPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia.
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Key Findings & Data:We report a 13-yr- old boy with HPP.
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Conclusion & Impact:This boy is the first case of HPP in whom CACNA1S mutation is reported from Turkey.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Kalsiyum kanalları · Ergen · Erkek

Abstract

Hypokalemic periodic paralysis (HPP) is a rare disease characterized by reversible attacks of muscle weakness accompanied by episodic hypokalemia. The most common causes of HPP are familial periodic paralysis (FPP), thyrotoxic periodic paralysis (TPP) and sporadic periodic paralysis (SPP), respectively. Recent molecular work has revealed that the majority of FPP and SPP is due to mutations in a skleletal muscle voltage-dependent calcium-channel: dihydropyridin receptor. We report a 13-yr- old boy with HPP. Genetic examination identified a mutation of nucleotide 1239 R (arginine) to H (histidine) in exon 30 of the calcium-channel gene, CACNA1S. This boy is the first case of HPP in whom CACNA1S mutation is reported from Turkey.

Özet

Hipokalemik periyodik paralizi (HPP), epizodik hipokaleminin eşlik ettiği geri dönüşümlü kas güçsüzlüğü atakları ile karakterize nadir bir hastalıktır. En sık sebepleri, sırasıyla, ailesel periyodik paralizi (APP), tirotoksik periyodik paralizi (TPP) ve sporadik periyodik paralizidir (SPP). Son yıllardaki moleküler çalışmalar, APP ve SPP’de başlıca mutasyonların iskelet kası voltaj bağımlı kalsiyum kanallarında bulunan dihidropiridin reseptörlerinde olduğunu ortaya çıkarmıştır. Genetik incelemesinde kalsiyum kanallarını kodlayan gen olan CACNA1S’in 30. ekzonundaki 1239. nükleotidde R (arginin) yerine H (histidin) amino asiti değişikliği tespit edilen, 13 yaşındaki olgu Türkiye’den mutasyonu bildirilen ilk HPP vakasıdır.

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Cite This Article

SAKALLIOĞLU, O., GÖK, F., AYDIN, H. İ., KALMAN, S., VURUCU, S. (2009). Voltage dependent calcium channel mutation in a Turkish patient with hypokalemic periodic paralysis, R1239H: Case report. Bakırköy Tıp Dergisi, Cilt: 5 - Sayı: 3, 120–122. https://ajindex.com/articles/131312

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References (10)

  1. Akar S, Comlekci A, Birlik M, et al: Thyrotoxic periodic paralysis in a Turkish male; the recurrence of the attack after radioiodine treatment. Endocr J 2005; 52: 149-151
  2. Koç F, Bozdemir H, Över F, Sarıca Y. Tirotoksik hipokalemik periyodik paralizi; 7 Olgunun analizi ve literatürün gözden geçirilmesi. Gülhane Tıp Dergisi 2004; 46: 59-65
  3. Koç F, Bozdemir H, Sarıca Y. Familyal periyodik paralizili bir aile. Gülhane Tıp Dergisi 2003; 45: 379-382
  4. Fontaine B, Vale-Santos J, Jurkat-Rott K, et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet 1994; 6: 267-272
  5. Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain. 2001; 124: 1091-1099
  6. Lin SH, Hsu YD, Cheng NL, Kao MC. Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. Am J Med Sci 2005; 329: 66-70
  7. Lin SH, Lin YF, Halperin ML. Hypokalaemia and paralysis. QJM 2001; 94: 133-139
  8. Schwartz GJ. Potassium. In: Avner ED, Harmon WE, Niaudet P (Eds). Pediatric Nephrology. 5th ed, Philadelphia: Lippincott Williams&Wilkins, 2005: p. 147-181
  9. Kim SH, Kim UK, Chae JJ, et al: Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis. Nephrol Dial Transplant 2001; 16: 939-944
  10. Fontaine B, Fournier E, Sternberg D, Vicart S, Tabti N. Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder. Neurotherapeutics 2007; 4: 225-232.