Dergiler / Yeni Tıp Dergisi / 2009 / Cilt: 26 - Sayı: 1
Hurler sendromu için kemik ilişi transplantasyonu sürecinde patent duktus arteriozus ve pulmoner hipertansiyon
- Dergi
- Yeni Tıp Dergisi
- Sayfa
- 46–48
- DOI
- —
Özet
Hurler syndrome (MPS I-H), which is caused by a deficiency in L-iduronidase enzyme, is a rarely seen autosomal recessive disease. Children with Hurler syndrome appear nearly normal at birth but, left untreated, show a progressive mental and physical deterioration caused by a build up of glycosaminoglycans (GAGs) in all organs of the body. Death is often caused by cardiac or respiratory failure and usually occurs before the second decade of life. In recent years, bone marrow transplantation (BMT) and enzyme replacement therapy have been employed in the management of patients with Hurler syndrome. Here we report a 2 year old girl with Hurler syndrome and severe dilated cardiomyopathy, who underwent BMT at 20 months of age from her HLA 6/6 identical paternal aunt. Patent ductus arteriosus (PDA) and worsening of pulmonary hypertension was detected during the course of BMT for Hurler syndrome.
Abstract
Hurler syndrome (MPS I-H), which is caused by a deficiency in L-iduronidase enzyme, is a rarely seen autosomal recessive disease. Children with Hurler syndrome appear nearly normal at birth but, left untreated, show a progressive mental and physical deterioration caused by a build up of glycosaminoglycans (GAGs) in all organs of the body. Death is often caused by cardiac or respiratory failure and usually occurs before the second decade of life. In recent years, bone marrow transplantation (BMT) and enzyme replacement therapy have been employed in the management of patients with Hurler syndrome. Here we report a 2 year old girl with Hurler syndrome and severe dilated cardiomyopathy, who underwent BMT at 20 months of age from her HLA 6/6 identical paternal aunt. Patent ductus arteriosus (PDA) and worsening of pulmonary hypertension was detected during the course of BMT for Hurler syndrome.