Case Report
Year 2018,
Volume: 8 Issue: 4, 366 - 368, 31.12.2018
Abstract
Pompe hastalığı, otozomal resesif
geçiş gösteren, lizozomal asit α-glikosidaz
enzim eksikliği sonucunda iskelet kasları, kalp, karaciğer ve sinir sisteminde
glikojen birikimiyle seyreden metabolik bir hastalıktır. Hastalığın belirti ve
bulguları bazen gözden kaçmakta ve tanı geç konulabilmektedir. En sık kalp
dokusu ve solunum sistemi etkilenmekte olup, yaşam süresi bu organlardaki
fonksiyon kayıplarına göre değişmektedir. İnfantil tip en ağır form olup
genellikle süt çocukluğu döneminde ölümle sonuçlanmaktadır. Enzim yerine koyma
tedavisi ile geç ve erişkin formlarında başarı sağlanırken infantil tipte
tedavinin yaşam süresine katkısı fazla değildir. Bu vakada erken dönemde tanı
konulup, 6. ayda enzim tedavisi başladığımız 3 yaş 10 aylıkken exıtus olan
olguyu sunmayı amaçladık.
Keywords
References
- 1. Van der Ploeg AT, Reuser AJ. Pompe’sdisease. Lancet 2008; 372: 1342-53
- 2. Fuller DD, ElMallah MK, Smith BK, Corti M, Lawson LA, Falk DJ,et al. The respiratory neuromuscular system in Pompe disease. Respir Physiol Neurobiol. 2013; 189: 241-9.
- 3. Liu Y, Yang Y, Wang B, Wu L, Liang, Kan Q, et al. Infantile Pompe disease: A case report and review of the Chinese literature. Exp Ther Med. 2016; 11: 235-8.
- 4. Y, Zhou X. Manganelli F, Ruggiero L. Clinical features of Pompe disease. Acta Myol 2013; 32: 82-4.
- 5. Byrne B.J, Falk DJ, Pacak CA, Nayak S, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Human Molecular Genetics 2011; 20: 61–68.
- 6. Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, et al. Pompe disease: literature review and case series. Neurol Clin. 2014; 32: 751-76.
- 7. Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, et al. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). Neuromuscul Disord. 2002; 12: 159-66.
- 8. Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010; 25: 277-83.
- 9. Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J,et al. Modification of thenaturalhistory of adult-onsetacidmaltasedeficiencybynutritionandexercisetherapy. MuscleNerve 2007; 35: 70-7.
- 10. Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, et al. CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Genet Med 2015; 17: 596.
Year 2018,
Volume: 8 Issue: 4, 366 - 368, 31.12.2018
Abstract
References
- 1. Van der Ploeg AT, Reuser AJ. Pompe’sdisease. Lancet 2008; 372: 1342-53
- 2. Fuller DD, ElMallah MK, Smith BK, Corti M, Lawson LA, Falk DJ,et al. The respiratory neuromuscular system in Pompe disease. Respir Physiol Neurobiol. 2013; 189: 241-9.
- 3. Liu Y, Yang Y, Wang B, Wu L, Liang, Kan Q, et al. Infantile Pompe disease: A case report and review of the Chinese literature. Exp Ther Med. 2016; 11: 235-8.
- 4. Y, Zhou X. Manganelli F, Ruggiero L. Clinical features of Pompe disease. Acta Myol 2013; 32: 82-4.
- 5. Byrne B.J, Falk DJ, Pacak CA, Nayak S, Nayak S, Herzog RW, Elder ME, et al. Pompe disease gene therapy. Human Molecular Genetics 2011; 20: 61–68.
- 6. Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, et al. Pompe disease: literature review and case series. Neurol Clin. 2014; 32: 751-76.
- 7. Fernandez-Hojas R, Huie ML, Navarro C, Dominguez C, Roig M, Lopez-Coronas D, et al. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). Neuromuscul Disord. 2002; 12: 159-66.
- 8. Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. 2010; 25: 277-83.
- 9. Slonim AE, Bulone L, Goldberg T, Minikes J, Slonim E, Galanko J,et al. Modification of thenaturalhistory of adult-onsetacidmaltasedeficiencybynutritionandexercisetherapy. MuscleNerve 2007; 35: 70-7.
- 10. Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, et al. CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Genet Med 2015; 17: 596.
There are 10 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 31, 2018 |
| Acceptance Date | September 5, 2018 |
| Published in Issue | Year 2018 Volume: 8 Issue: 4 |