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Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads

INTRODUCTION: Mucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6-sulfate accumulation in various organs. We presen...

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Autores principales: Ma, Yiyang, Peng, Hao, Hsiang, Fuchou, Fang, Haoyu, Du, Dajiang, Jiang, Chenyi, Wang, Yehui, Chen, Chun, Zhang, Changqing, Gao, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289150/
https://www.ncbi.nlm.nih.gov/pubmed/35859948
http://dx.doi.org/10.3389/fped.2022.914889
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author Ma, Yiyang
Peng, Hao
Hsiang, Fuchou
Fang, Haoyu
Du, Dajiang
Jiang, Chenyi
Wang, Yehui
Chen, Chun
Zhang, Changqing
Gao, Yun
author_facet Ma, Yiyang
Peng, Hao
Hsiang, Fuchou
Fang, Haoyu
Du, Dajiang
Jiang, Chenyi
Wang, Yehui
Chen, Chun
Zhang, Changqing
Gao, Yun
author_sort Ma, Yiyang
collection PubMed
description INTRODUCTION: Mucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6-sulfate accumulation in various organs. We present a 17-year-old woman with progressive bilateral hip pain and radiographic evidence of spondyloepiphyseal dysplasia. METHODS: Diagnosis of MPS IVA was made based on whole-exome sequencing (WES) of blood samples collected from the patient and family members, high urinary glycosaminoglycan excretion, supportive clinical manifestations, radiographic examinations, including whole-body X-rays, cervical MRI, and pelvic CT. The patient underwent bilateral total hip arthroplasties sequentially, at a 1-month interval. Femoral heads were preserved for the micro-CT (μCT) analysis and the osteochondral histology examination. RESULTS: The patient presented with multiple skeletal deformities, including vertebras and long bone deformities. WES disclosed compound heterozygous variants at exon 11 (c.1156C>T) and exon 12 (c.1288C>G) of the GALNS (NM_000512.5). The μCT analysis revealed significant bone quantity loss and microarchitectural change in both weight-bearing area (WBA) and non-weight-bearing area (NWBA) of the femoral heads, while histological analysis showed structural abnormity of articular cartilage in the WBA of the femoral heads. CONCLUSION: We have found compound heterozygous variants of GALNS. This is also the first study to report the microarchitectural and histological changes of both subchondral bone and articular cartilage of the femoral head in a patient with MPS IVA.
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spelling pubmed-92891502022-07-19 Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads Ma, Yiyang Peng, Hao Hsiang, Fuchou Fang, Haoyu Du, Dajiang Jiang, Chenyi Wang, Yehui Chen, Chun Zhang, Changqing Gao, Yun Front Pediatr Pediatrics INTRODUCTION: Mucopolysaccharidosis Type IVA (MPS IVA) or Morquio A Syndrome, is a rare metabolic disorder caused by compromised galactosamine-6 sulfatase (GALNS) encoded by GALNS gene (NM_000512.5), leading to keratin sulfate (KS), and chondroitin-6-sulfate accumulation in various organs. We present a 17-year-old woman with progressive bilateral hip pain and radiographic evidence of spondyloepiphyseal dysplasia. METHODS: Diagnosis of MPS IVA was made based on whole-exome sequencing (WES) of blood samples collected from the patient and family members, high urinary glycosaminoglycan excretion, supportive clinical manifestations, radiographic examinations, including whole-body X-rays, cervical MRI, and pelvic CT. The patient underwent bilateral total hip arthroplasties sequentially, at a 1-month interval. Femoral heads were preserved for the micro-CT (μCT) analysis and the osteochondral histology examination. RESULTS: The patient presented with multiple skeletal deformities, including vertebras and long bone deformities. WES disclosed compound heterozygous variants at exon 11 (c.1156C>T) and exon 12 (c.1288C>G) of the GALNS (NM_000512.5). The μCT analysis revealed significant bone quantity loss and microarchitectural change in both weight-bearing area (WBA) and non-weight-bearing area (NWBA) of the femoral heads, while histological analysis showed structural abnormity of articular cartilage in the WBA of the femoral heads. CONCLUSION: We have found compound heterozygous variants of GALNS. This is also the first study to report the microarchitectural and histological changes of both subchondral bone and articular cartilage of the femoral head in a patient with MPS IVA. Frontiers Media S.A. 2022-07-04 /pmc/articles/PMC9289150/ /pubmed/35859948 http://dx.doi.org/10.3389/fped.2022.914889 Text en Copyright © 2022 Ma, Peng, Hsiang, Fang, Du, Jiang, Wang, Chen, Zhang and Gao. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Ma, Yiyang
Peng, Hao
Hsiang, Fuchou
Fang, Haoyu
Du, Dajiang
Jiang, Chenyi
Wang, Yehui
Chen, Chun
Zhang, Changqing
Gao, Yun
Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
title Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
title_full Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
title_fullStr Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
title_full_unstemmed Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
title_short Case Report: Diagnosis of Mucopolysaccharidosis Type IVA With Compound Heterozygous Galactosamine-6 Sulfatase Variants and Biopsy of Replaced Femoral Heads
title_sort case report: diagnosis of mucopolysaccharidosis type iva with compound heterozygous galactosamine-6 sulfatase variants and biopsy of replaced femoral heads
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289150/
https://www.ncbi.nlm.nih.gov/pubmed/35859948
http://dx.doi.org/10.3389/fped.2022.914889
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