SavedAdd your journal

Journals / Van Tıp Dergisi / 2016 / Cilt: 23 - Sayı: 1

The Importance of Molecular Diagnosis in Alpha 1 Antitrypsin Deficiency: Case Report

Alfa 1 Antitipsin Eksikliğinde Moleküler Tanının Önemi: Olgu Sunumu

GÜLAY GÜLEÇ CEYLAN
Ayşegül ŞENTÜRK
Canan HASANOĞLU
Pages
92–94
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

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

In this case report, the importance of genotyping at the diagnosis and treatment of AAT deficiency is emphasized

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Alpha 1 antitrypsin (AAT) is a glycoprotein which is synthesized by liver cells.
📊
Key Findings & Data:AAT gene is localized on chromosome 14q32.19.
💡
Conclusion & Impact:In this case report, the importance of genotyping at the diagnosis and treatment of AAT deficiency is emphasized
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Alpha 1 antitrypsin (AAT) is a glycoprotein which is synthesized by liver cells. AAT deficiency is the most commonly seen genetic cause of childhood liver diseases and adulthood lung emphysema. AAT gene is localized on chromosome 14q32.19. The most common seen variant is PIZZ allele which is formed by inserting lysine instead of glutamate at position 342. Here, molecular genetic testing is performed for our case with chronic obstructive lung disease for 10 years. There were widespread emphysematous views and laboratory findings that support AAT deficiency. In our case, homozygote PIZZ allele (mutant allele) has been detected on AAT gene. In this case report, the importance of genotyping at the diagnosis and treatment of AAT deficiency is emphasized

Özet

Alfa 1 Antitripsin (AAT), karaciğer hücreleri tarafından sentezlenen bir glikoproteindir. Alfa-1 antitripsin eksikliği, çocukluk çağı karaciğer hastalıklarının ve erişkinlerdeki akciğer amfizeminin en sık görülen genetik nedenidir. AAT geni, 14q32.19 kromozom üzerinde yer almaktadır. En sık görülen eksik varyant PİZZ alleli olup AAT geninin 342. pozisyonunda glutamat yerine lizin gelmesi ile oluşur. Yaklaşık 10 yıldır kronik obstrüktif akciğer hastalığı öyküsü olan olgumuzda yaygın amfizematöz görüntüler ve AAT eksikliğini destekleyen laboratuar bulguları sonucunda ileri moleküler genetik inceleme yapılmıştır. Hastanın AAT geninde homozigot PİZZ alleli (mutant allel) tespit edilmiştir. Bu olgu sunumunda, klinisyenlere yardımcı olacak şekilde, AAT eksikliğinin tanısı ve tedavinin planlanmasında genotiplendirmenin önemi ortaya konulmak istenmiştir

🔖

Cite This Article

CEYLAN, G. G., ŞENTÜRK, A., HASANOĞLU, C. (2016). The Importance of Molecular Diagnosis in Alpha 1 Antitrypsin Deficiency: Case Report. Van Tıp Dergisi, Cilt: 23 - Sayı: 1, 92–94. https://ajindex.com/articles/334039

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (9)

  1. Primhak RA, Tanner MS. Alpha-1 antitrypsin deficiency. Arch Dis Child 2001; 85(1): 2-5.
  2. Massi G, Chiarelli C. Alpha 1-antitrypsin: molecular structure and the Pi system. Acta Paediatr Suppl 1994; 393: 1-4.
  3. Simsek H, Pinar A, Altinbas A, Alp A, Balaban YH, Buyukasik Y ve ark. Cutoff level to detect heterozygous alpha 1 antitrypsin deficiency in Turkish population. J Clin Lab Anal 2011; 25(4): 296-299. Hutchison DC. Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 1998; 92(3): 367-377.
  4. Marcus N, Teckman JH, Perlmutter DH. Alpha- 1-antitrypsin deficiency: from genotype to childhood disease. J Pediatr Gastroenterol Nutr 1998; 27(1): 65-74.
  5. Blank CA, Brantly M. Clinical features and molecular characteristics of ?1-antitrypsin deficiency. Ann Allergy 1994; 72(2): 105-120.
  6. Altınbaş A, Ekiz F, Çoban Ş, Yüksel O. Alfa 1 Antitripsin Eksikliği. Yeni Tıp Dergisi 2012; 29(3): 138-141.
  7. Ioachimescu OC, Stoller JK. A review of alpha-1 antitrypsin deficiency. COPD 2005; 2(2):263-275.
  8. Kuloğlu Z, Kansu A, Özdemir Sİ, Demirçeken F, Erden E, Girgin N. Ciddi kanamayla tanı alan alfa-1 antitripsin eksikliği olan bir olgu. Türk Pediatri Arşivi 2006; 41: 228- 232. Memoranda: Alpha 1 antitrypsin deficiency: Memorandum from a WHO meeting. Bull World Health Organ 1997; 75(5): 397-415.
  9. Sharp RR, De Serres FJ, Newman L, Sandhous RA, Walsh JW, Hood E, et al. Environmental occupational and genetic risc factors for Alpha 1 antitrypsin deficiency. Environ Health Perspect 2003; 111(4): 1749-1752.