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Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1)-related multiple arterial stenoses is a rare clinical syndrome in which global arterial calcification begins in infancy, with a high probability of early mortality, and hypophosphatemic rickets develops later in childhood. The vascular statu...

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Autores principales: Liu, Jie, Song, Xitao, Zhang, Daming, Jiang, Yan, Ma, Mingsheng, Qiu, Zhengqing, Xia, Weibo, Chen, Yuexin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155832/
https://www.ncbi.nlm.nih.gov/pubmed/37153460
http://dx.doi.org/10.3389/fcvm.2023.1126445
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author Liu, Jie
Song, Xitao
Zhang, Daming
Jiang, Yan
Ma, Mingsheng
Qiu, Zhengqing
Xia, Weibo
Chen, Yuexin
author_facet Liu, Jie
Song, Xitao
Zhang, Daming
Jiang, Yan
Ma, Mingsheng
Qiu, Zhengqing
Xia, Weibo
Chen, Yuexin
author_sort Liu, Jie
collection PubMed
description Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1)-related multiple arterial stenoses is a rare clinical syndrome in which global arterial calcification begins in infancy, with a high probability of early mortality, and hypophosphatemic rickets develops later in childhood. The vascular status of an ENPP1-mutated patient when they enter the rickets phase has not been thoroughly explored. In this study, we presented a case of an adolescent with an ENPP1 mutation who complained of uncontrolled hypertension. Systematic radiography showed renal, carotid, cranial, and aortic stenoses as well as random calcification foci on arterial walls. The patient was incorrectly diagnosed with Takayasu’s arteritis, and cortisol therapy had little effect on reducing the vascular stenosis. As a result, phosphate replacement, calcitriol substitution, and antihypertensive medication were prescribed, and the patient was discharged for further examination. This research presented the vascular alterations of an ENPP1-mutanted patient, and while there is less calcification, intimal thickening may be the primary cause of arterial stenosis.
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spelling pubmed-101558322023-05-04 Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study Liu, Jie Song, Xitao Zhang, Daming Jiang, Yan Ma, Mingsheng Qiu, Zhengqing Xia, Weibo Chen, Yuexin Front Cardiovasc Med Cardiovascular Medicine Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1)-related multiple arterial stenoses is a rare clinical syndrome in which global arterial calcification begins in infancy, with a high probability of early mortality, and hypophosphatemic rickets develops later in childhood. The vascular status of an ENPP1-mutated patient when they enter the rickets phase has not been thoroughly explored. In this study, we presented a case of an adolescent with an ENPP1 mutation who complained of uncontrolled hypertension. Systematic radiography showed renal, carotid, cranial, and aortic stenoses as well as random calcification foci on arterial walls. The patient was incorrectly diagnosed with Takayasu’s arteritis, and cortisol therapy had little effect on reducing the vascular stenosis. As a result, phosphate replacement, calcitriol substitution, and antihypertensive medication were prescribed, and the patient was discharged for further examination. This research presented the vascular alterations of an ENPP1-mutanted patient, and while there is less calcification, intimal thickening may be the primary cause of arterial stenosis. Frontiers Media S.A. 2023-04-19 /pmc/articles/PMC10155832/ /pubmed/37153460 http://dx.doi.org/10.3389/fcvm.2023.1126445 Text en © 2023 Liu, Song, Zhang, Jiang, Ma, Qiu, Xia and Chen. 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) (https://creativecommons.org/licenses/by/4.0/) . 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 Cardiovascular Medicine
Liu, Jie
Song, Xitao
Zhang, Daming
Jiang, Yan
Ma, Mingsheng
Qiu, Zhengqing
Xia, Weibo
Chen, Yuexin
Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
title Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
title_full Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
title_fullStr Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
title_full_unstemmed Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
title_short Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
title_sort case report: multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of enpp1: a case study
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155832/
https://www.ncbi.nlm.nih.gov/pubmed/37153460
http://dx.doi.org/10.3389/fcvm.2023.1126445
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