Ağır Hipertrofik Kardiyomiyopati ile Kendini Gösteren İnfantil Pompe Hastalığı: Olgu Sunumu

İnfantil Pompe hastalığı (Glikojen depo hastalığı tip 2), hipertrofik kardiyomiyopati, hipotoni ve solunum yetmezliği ile giden, otosomal resesif geçiş gösteren fatal bir hastalıktır. Kaslarda biriken glikojen nedeniyle ilerleyici bir seyir gösterir. Bu yazıda solunum ve kalp kaslarının tutulduğu, EKG’sinde dev QRS kompleksleri, ekokardiyografisinde interventriküler septum ve sol ventrikülde hipertrofik kardiyomiyopatisi olan olgumuzu sunmak istedik. (Ha­se­ki T›p Bül­te­ni 2015; 53: 266-8)

Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report Süleyman Bayraktar, Bilge Tanyeri Bayraktar*, Murat Elevli

Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure. It is a progressive condition due to accumulation of glycogen in the muscles. We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography. (The Me­di­cal Bul­le­tin of Ha­se­ki 2015; 53: 266-8)

Kaynakça

1. Kishnani P, Howell RR. Pompe disease in infants and children. J Pediatrics 2004;144:35-43.

2. Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med 2002;2:145-66.

3. Pompe Disease Diagnostic Working Group, Winchester B, Bali D, et al. Methods for a prompt and reliable laboratory diagnosis of pompe disease: report from an international consensus meeting. Mol Genet Metab 2008;93:275-81.

4. Howell RR, Byrne B, Darras BT, Kishani P, Nicolino M, van der Ploeg A. Diagnostic challenges for pompe disease: an under- recognized cause of floppy baby syndrome. Genet Med 2006;8:289-96.

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6. Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset pompe disease. J Pediatr 2006;148:671-6.

7. Bharati S, Serratto M, DuBrow I, et al. The conduction system in pompe’s disease. Pediatr Cardiol 1982;2:25-32.

8. van den Hout HM, Hop W, van Diggelen OP, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-40.

9. Ausems MG, Lochman P, van Diggelen OP, Ploss van Amstel HK, Reuser AJ, Wokke JH. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999;52:851-3.

10. Zhang H, Kallwass H, Young SP, et al. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet Med 2006; 8:302-6.

11. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7:713-6.

12. Engel AG, Hirschhorn R. Acid maltase deficiency. In: Engel AG, Banker B, editors. Myology. 2th ed. New York: Mc Graw- Hill; 1994. p.1533-53.

13. Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R. Sequence of the cDNA and 5’-flanking region for human acid alpha-glucosidase, detection of an intron in the 5’ untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. DNA Cell Biol 1990; 9:85-94.

14. Kroos M, Pomponio RJ, van Vliet L, et al. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 2008;29:13-16.

15. Hamdan MA, Almalik MH, Mirghani HM. Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results. J Inherit Metab Dis 2008;31(Suppl 2):431-6.

16. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile- onset Pompe disease. Neurology 2007;68:99-109.

17. Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res 2009;66:329-35.

18. Hamdan MA, El-Zoabi BA, Begam MA, Mirghani HM, Almalik MH. Antenatal diagnosis of pompe disease by fetal echocardiography: impact on outcome after early initiation of enzyme replacement therapy. J Inherit Metab Dis 2010;33:333-9.

Kaynak Göster

  • ISSN: 1302-0072
  • Yayın Aralığı: Yılda 5 Sayı
  • Başlangıç: 2005

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