Öz
Objective: Lysosomal storage diseases which were first described in 1880; are important group of metabolic disorders characterized by the deposition of the substrates in lysosomes due to defects of the activity or transport of lysosomal enzymes or a defect in the receptor proteins. LSDs usually show a progressive clinical course and may not be represented with any clinical signs during the neonatal period. The overall prevalence of LSDs is 1 / 7000-8000. The aim of this study was to share the clinical characteristics of our LSDs patients and the experiences of our pediatric metabolic diseases department.
Material and Methods: This retrospective cohort study was conducted at Kırıkkale University Hospital with 56 patients diagnosed as lysosomal storage disease among 315 patients diagnosed with metabolic diseases. Data were collected from outpatient clinic patient files who were diagnosed between 2011- 2018.
Results: A total of 315 patients diagnosed with inherited metabolic disease were followed in our clinic and 56 (17.7 %) of them were diagnosed as LSDs. The 56 patients were suffering from the following diseases: 10 patients with Mucopolysaccharidosis, 1 patient with mucolipidosis type 2 (I-cell disease), 41 patients with sphingolipidoses, two patients with cystinosis, one patient with Infantile Pompe Disease and one patient with beta-mannosidosis.
The mean age of the patients with Fabry Disease and the other patients diagnosed with other LSDs were 34.7±14.2 years (minimum 8, maximum 64) and 2.67±3.4 years (minimum 0, maximum 10.5) respectively. All diagnoses were verified by specific enzyme analysis and/or by conducting genetic mutation analysis.
Conclusion: The most common lysosomal storage disease among our patients were Mucopolysaccharidosis and sphingolipidosis. Treatment options, such as enzyme replacement therapy and bone marrow transplantation exist, and 24 of these patients are receiving enzyme replacement therapy.