Cargando…
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...
Autores principales: | , , , , , , , , , |
---|---|
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 |
_version_ | 1784748599233478656 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9289150 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT mayiyang casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT penghao casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT hsiangfuchou casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT fanghaoyu casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT dudajiang casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT jiangchenyi casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT wangyehui casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT chenchun casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT zhangchangqing casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads AT gaoyun casereportdiagnosisofmucopolysaccharidosistypeivawithcompoundheterozygousgalactosamine6sulfatasevariantsandbiopsyofreplacedfemoralheads |