Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.

Autor:	Arslan N; Division of Pediatric Metabolism, Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Türkiye., Coker M; Division of Pediatric Metabolism, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Türkiye., Gokcay GF; Division of Pediatric Metabolism, Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Türkiye., Kiykim E; Division of Pediatric Metabolism, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Onenli Mungan HN; Division of Pediatric Metabolism, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Türkiye., Ezgu F; Division of Pediatric Metabolism and Pediatric Genetics, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Türkiye.
Jazyk:	angličtina
Zdroj:	Frontiers in pediatrics [Front Pediatr] 2023 Jun 26; Vol. 11, pp. 1113422. Date of Electronic Publication: 2023 Jun 26 (Print Publication: 2023).
DOI:	10.3389/fped.2023.1113422
Abstrakt:	This review by a panel of pediatric metabolic disease specialists aimed to provide a practical and implementable guidance document to assist clinicians in best clinical practice in terms of recognition, diagnosis and management of patients with acid sphingomyelinase deficiency (ASMD). The participating experts consider the clinical suspicion of ASMD by the physician to be of utmost importance in the prevention of diagnostic delay and strongly suggest the use of a diagnostic algorithm including/starting with dried blood spots assay in the timely diagnosis of ASMD in patients presenting with hepatosplenomegaly and a need for increased awareness among physicians in this regard to consider ASMD in the differential diagnosis. In anticipation of the introduction of enzyme replacement therapy, raising awareness of the disease among physicians to prevent diagnostic delay and further investigation addressing natural history of ASMD across the disease spectrum, potential presenting characteristics with a high index of suspicion, as well as biomarkers and genotype-phenotype correlations suggestive of poor prognosis seem important in terms of implementation of best practice patterns. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2023 Arslan, Coker, Gokcay, Kiykim, Onenli Mungan and Ezgu.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu