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@Article{Lipiński2024-10-28,
author={Lipiński, Patryk
and Ługowska, Agnieszka
and Tylki-Szymańska, Anna},
title={Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update},
title={Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update},
journal={Advances in Clinical and Experimental Medicine},
year={2024},
volume={33},
number={10},
pages={1163--1168},
month={10},
day={28},
publisher={Wroclaw Medical University},
abstract={Background. Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease (LSD) associated with biallelic pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene.Objectives. The aim of this study was to provide the 2024 update on chronic visceral and neurovisceral ASMD diagnosed in the infancy/childhood in Polish patients.Material and Methods. All the patients diagnosed in the pediatric age (0&ndash;18 years) with ASMD, both chronic neurovisceral and visceral type, and then systematically followed up, were enrolled into the study.Results. A total number of 7 patients were enrolled into the study. Four patients were previously reported. Two patients were newly recognized with ASMD &ndash; 1 with chronic visceral and 1 with chronic neurovisceral ASMD. Splenomegaly was noted in all the patients while a mild liver enlargement was observed in 4 of 7 patients. All patients presented with decreased high-density lipoprotein cholesterol (HDL-C) and decreased serum 25-hydroxy-vitamin D concentration while almost all (6 of 7) with hypercholesterolemia. Cherry-red spot was observed in 5 of 7 patients, including 1 patient with neurovisceral type. Seven various SMPD1 gene variants were identified and missense variants were the most common types of genetic lesions, comprising 71% of all alleles. In all the screened patients, lyso-sphingomyelin (lyso-SM) in dried blood spot (DBS) was found elevated; however, the greater values were observed for patients with chronic neurovisceral type.Conclusion. Chronic acid sphingomyelinase deficiency (ASMD) is a slowly progressive disease. Pediatric ASMD is characterized by spleno-hepatomegaly, dyslipidemia (with decreased HDL-C as the most characteristic) and infiltrative (interstitial) lung disease. Both visceral and neurovisceral chronic ASMD patients could present with cherry-red spot. Both acid spingomyelinase activity and lyso-spingomyelin concentration in DBS should be regarded as a first-tier screening method into ASMD.},
issn={1899-5276},
doi={10.17219/acem/193696},
url={http://dx.doi.org/10.17219/acem/193696},