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Skeletal Abnormalities and VDR1 Gene Polymorphisms in Mucopolysaccharidosis Patients

Authors Alkhzouz C, Cabau G, Lazea C, Asavoaie C, Bucerzan S, Mirea AM, Farcas M, Miclaus M Jnr, Popp R, Miclea D

Received 6 December 2020

Accepted for publication 22 February 2021

Published 17 March 2021 Volume 2021:14 Pages 349—358


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Martin Bluth

Camelia Alkhzouz,1,2 Georgiana Cabau,2 Cecilia Lazea,2,3 Carmen Asavoaie,3 Simona Bucerzan,1,2 Andreea Manuela Mirea,2 Marius Farcas,2 Maria Miclaus Jnr,2 Radu Popp,2 Diana Miclea1,2

1Department of Medical Genetics, Clinical Emergency Hospital for Children, Cluj-Napoca, Romania; 2“Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 3First Pediatric Clinic, Clinical Emergency Hospital for Children, Cluj-Napoca, Romania

Correspondence: Diana Miclea
Department of Medical Genetics, Clinical Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania
Email [email protected]

Introduction: Articular and bone damage, which is so disabling in Mucopolysaccharidosis (MPS), requires attention as to the explanatory bias of the pathogenetic mechanisms identified to date. The vitamin D receptor (VDR) has been investigated in many studies in correlation with bone metabolism, osteoporosis, and the impaired bone mineral density associated with certain polymorphisms of the VDR gene.
Aim: This study aims to observe whether there is an association between clinical features, phospho-calcium metabolism parameters and the VDR gene polymorphisms in patients with MPS.
Patients and Method: We evaluated six patients with MPS type I, 20 patients with MPS type II, two patients with MPS types IIIA and IIIB and three patients with MPS type IVB. In these patients, phospho-calcium metabolism, markers of bone formation, bone radiographs and bone densitometry were evaluated, as were four polymorphisms of the VDR gene (ApaI, BsmI, FokI and TaqI).
Results: There was a deficiency in 25 hydroxy vitamin D in MPS type I patients at the final evaluation and in MPS type II patients, both at ERT initiation and at the last evaluation. The analysed polymorphisms were not associated with modified calcium-phosphor levels, but some differences were observed regarding the level of 25 OH vitamin D. Thus, in the case of AA polymorphism, all patients have a 25 OH vitamin D deficiency, and one patient with the AA genotype and three with Aa have a 25 OH vitamin D deficiency and secondary hyperparathyroidism due to this deficiency (four patients), all of them having the Bb phenotype.
Conclusion: In MPS patients, vitamin D deficiency is observed, as it is in some patients with secondary hyperparathyroidism, which indicates vitamin D supplementation to protect bone metabolism. There are no obvious correlations between VDR polymorphism and bone metabolism in MPS patients.

Keywords: mucopolysaccharidosis, vitamin D receptor, ApaI, BsmI, FokI, TaqI

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