Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.

Autor:	Bulut FD; Pediatric Metabolism Department, Adana City Research and Education Hospital, Adana, Turkey., Bozbulut NE; Pediatric Gastroenterology and Hepatology Department, Antakya Research and Education Hospital, Antakya, Hatay, Turkey., Özalp Ö; Genetics Department, Adana City Research and Education Hospital, Adana, Turkey., Dalgiç B; Pediatric Gastroenterology and Hepatology Department, Gazi University, Ankara, Turkey., Mungan NÖ; Pediatric Metabolism and Nutrition Department, Çukurova University, Adana, Turkey., Koç Uçar H; Pediatric Neurology Department, Adana City Research and Education Hospital, Adana, Turkey., Biberoğlu G; Biochemistry Department, Gazi University, Ankara, Turkey.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Feb 02; Vol. 35 (5), pp. 681-685. Date of Electronic Publication: 2022 Feb 02 (Print Publication: 2022).
DOI:	10.1515/jpem-2021-0580
Abstrakt:	Objectives: Niemann-Pick disease type C (NPC) is a lysosomal storage disease due to impaired intracellular lipid trafficking caused by biallelic pathogenic variants in NPC1 or NPC2 genes. NPC is classified according to the age of onset of neurological manifestations. Cholestatic liver disease can be transient or lead to liver failure. Accompanying neurological findings can be observed at any age. In this report, an infant with a homozygous pathogenic variant in NPC1 gene whose diagnosis was eventually confirmed by specific biomarkers is described. Case Presentation: A sixteen-day-old male was admitted to hospital with prolonged jaundice. He had mild hepatosplenomegaly, conjugated hyperbilirubinemia, elevated liver transaminases, and mild hypoalbuminemia. Cholestasis resolved spontaneously and patient was readmitted due to progressive hepatosplenomegaly without any neurologic findings when he was 8 months old. Molecular investigations detected homozygous c.1123A > C (p.Thr375Pro) pathogenic variant in NPC1 gene. NPC-specific lysosomal biomarkers such as Lysosphingomyelin and Lysosphingomyelin-509 were elevated, confirming the diagnosis. Conclusions: The clinical features of NPC are highly heterogeneous, from disease severity or age of onset to disease progression. Patients presenting with transient neonatal cholestasis and should be regularly followed for neurodevelopmental status and visceromegaly. In the case of variants of unknown significance in NPC1 gene, lysosomal biomarkers play an important role when genetic analyses are inconclusive. (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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