Deprecated: Constant FILTER_SANITIZE_STRING is deprecated in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 40

Deprecated: Constant FILTER_SANITIZE_STRING is deprecated in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 49

Deprecated: Constant FILTER_SANITIZE_STRING is deprecated in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 59

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 208

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 209

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 210

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 211

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 212

Warning: Cannot modify header information - headers already sent by (output started at /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php:40) in /home/srv55653/domains/advances.umw.edu.pl/public_html/cytowania/index.php on line 213
TY - JOUR JO - Advances in Clinical and Experimental Medicine J2 - Adv Clin Exp Med SN - 1899-5276 PB - Wroclaw Medical University VL - 33 IS - 10 PY - 2024 ID - Lipiński2024-10-28 TI - Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update AB - 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 (0–18 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 – 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. AU - Lipiński, Patryk AU - Ługowska, Agnieszka AU - Tylki-Szymańska, Anna SP - 1163 EP - 1168 DA - 2024-10-28 DO - 10.17219/acem/193696 UR - http://dx.doi.org/10.17219/acem/193696 ER -