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Recent Advances in the Management of Rare Metabolic Bone Diseases
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Recent Advances in the Management of Rare Metabolic Bone Diseases

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Orthopedics".

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 21867

Special Issue Editors

Dr. Elena A. Tsourdi

E-Mail Website
Guest Editor
Division of Endocrinology, Diabetes and Metabolic Bone Diseases, Department of Medicine III, Technische Universität Dresden Medical Center, Fetscherstraße 74, 01307 Dresden, Germany
Interests: bone; osteoblasts; osteoclasts; osteocytes; Wnt signaling
Dr. Polyzois Makras

E-Mail Website
Guest Editor
Department of Endocrinology and Diabetes, 251 Hellenic Air Force & VA General Hospital, 3 Kanellopoulou St, 11525 Athens, Greece
Interests: hip; fracture; treatment; bone mineral density; osteoporosis; bone; bone metabolism; bone mineralization
Prof. Dr. Andrea Burden

E-Mail Website
Guest Editor
Institute of Pharmaceutical Sciences, Department of Chemistry and Applied Biosciences, ETH Zürich, HCI H407, Vladimir-Prelog-Weg 4, HCI H407, CH-8093 Zurich, Switzerland
Interests: osteoporosis; pharmacoepidemiology; pharmacy; epidemiology and public health; fracture
Special Issues, Collections and Topics in MDPI journals
Dr. Maria Yavropoulou

E-Mail Website
Guest Editor
1. Endocrinology Unit, First Department of Propaedeutic and Internal Medicine, National and Kapodistrian University of Athens, Medical School, LAIKO General Hospital of Athens, 115 27 Athens, Greece
2. Department of Medical Research, LCH Adult Clinic, Hellenic Air Force and VA General Hospital, 115 27 Athens, Greece
Interests: bone biology; insulin; osteoporosis; bone; incretins; metabolism; osteoblasts; glucose
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare metabolic bone diseases comprise a heterogeneous group of disorders caused by abnormalities of the bone matrix, calcium, phosphate, or vitamin D metabolism.

In recent decades, a more detailed description of clinical phenotypes and radiographic features of several genetic bone and mineral metabolism disorders accompanied by the discovery of key molecular pathways involved in pathogenesis have revived academic interest in this area.

Recent advances in molecular biology and biotechnology have paved the way to a molecular-based individualized therapeutic approach to these rare diseases, which has dramatically improved the management and life expectancy of affected patients. In this Special Issue on “Recent Advances in the Management of Rare Metabolic Bone Diseases”, we aim to present recent breakthroughs in both diagnosis and management of these diseases. Accepted articles will include topics on the pathophysiology of rare metabolic bone diseases, the molecular pathways involved, and novel and existing therapies focused on both basic and clinical approaches.

Our goal is to provide a comprehensive overview of this currently expanding field incorporating all aspects of the complex management of our patients.

In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) novel insights in the pathogenesis and management of rare metabolic bone diseases.

We look forward to receiving your contributions.

Dr. Elena A. Tsourdi
Dr. Polyzois Makras
Prof. Dr. Andrea Burden
Dr. Maria P. Yavropoulou
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Rare
  • Bone diseases
  • MEN1 hyperparathyroidism
  • Fibrous dysplasia
  • Paget’s disease of bone
  • Burosumab
  • X-linked hypophosphatemic rickets
  • Tumor-induced osteomalacia
  • Hypophosphatasia
  • Familial hypocalciuric hypercalcemia
  • Sclerosteosis
  • Van Bucherm disease
  • Pseudohypoparathyroidism
  • Genetic causes of hypoparathyroidism
  • Osteogenesis imperfecta
  • Osteopetrosis

Published Papers (5 papers)

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Research

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14 pages, 1316 KiB  
Article
Determinants of Quality of Life in Adult Patients with Chronic Non-Bacterial Osteomyelitis (CNO) of the Sternocostoclavicular Region (SCCH): A Dutch Single Center Study
by Ashna I. E. Ramautar, Cornelie D. Andela, Neveen A. T. Hamdy, Elizabeth M. Winter and Natasha M. Appelman-Dijkstra
J. Clin. Med. 2022, 11(7), 1852; https://doi.org/10.3390/jcm11071852 - 27 Mar 2022
Cited by 3 | Viewed by 1723
Abstract
Sternocostoclavicular hyperostosis (SCCH), the main clinical manifestation of chronic non-bacterial osteomyelitis (CNO) in adults, is associated with various degrees of chronic pain and restricted shoulder girdle function. We evaluated the impact of CNO/SCCH on quality of life (QoL) and its determinants in 136 [...] Read more.
Sternocostoclavicular hyperostosis (SCCH), the main clinical manifestation of chronic non-bacterial osteomyelitis (CNO) in adults, is associated with various degrees of chronic pain and restricted shoulder girdle function. We evaluated the impact of CNO/SCCH on quality of life (QoL) and its determinants in 136 adult patients with this rare auto-inflammatory bone disorder using the Short Form 36, Brief Pain Inventory, Brief Illness Perception, Utrecht Coping List, and Shoulder Rating questionnaires. Data were compared with those of the general Dutch population, patients with chronic pain, fibrous dysplasia, or osteoarthritis. Eighty-six (64%) predominantly female (85%) patients with completed questionnaires were included in the study. Sixty-four (75%) had isolated CNO/SCCH. Mean delay in diagnosis was 3.0 ± 5.5 (SD) years, 90% had variable pain, and 84% limited shoulder function. Compared to healthy and chronically diseased reference populations, CNO/SCCH patients demonstrated significant impairments in almost all aspects of QoL, maladaptive illness perceptions, and ineffective coping strategies. For patients with >5-year delay in diagnosis, higher pain scores and limited shoulder function were identified as determinants for impaired QoL. Patients with CNO/SCCH reported significant impairments in QoL associated with clinical and psychological determinants. Clinical measures such as shortening delay in diagnosis, effective pain management, and psychosocial interventions targeting these factors should help minimize the negative impact of CNO/SCCH on QoL. Full article
(This article belongs to the Special Issue Recent Advances in the Management of Rare Metabolic Bone Diseases)
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Review

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10 pages, 1849 KiB  
Review
Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy
by Jakob Höppner, Kathrin Sinningen, Adalbert Raimann, Barbara Obermayer-Pietsch and Corinna Grasemann
J. Clin. Med. 2022, 11(9), 2595; https://doi.org/10.3390/jcm11092595 - 5 May 2022
Cited by 6 | Viewed by 4872
Abstract
Familial hypocalciuric hypercalcemia (FHH) is a mostly benign condition of elevated calcium and PTH levels based on a hyposensitive calcium sensing receptor (CaSR) in FHH 1 or its downstream regulatory pathway in FHH2 and FHH3. In children, adolescents and young adults [...] Read more.
Familial hypocalciuric hypercalcemia (FHH) is a mostly benign condition of elevated calcium and PTH levels based on a hyposensitive calcium sensing receptor (CaSR) in FHH 1 or its downstream regulatory pathway in FHH2 and FHH3. In children, adolescents and young adults with FHH the main challenge is to distinguish the condition from primary hyperparathyroidism and thereby to avoid unnecessary treatments including parathyroidectomy. However, inheritance of FHH may result in neonatal hyperparathyroidism (NHPT) or neonatal severe hyperparathyroidism (NSHPT), conditions with high morbidity, and in the latter even high mortality. This review focuses on the genetic and pathophysiological framework that leads to the severe neonatal form, gives recommendations for counselling and summarizes treatment options. Full article
(This article belongs to the Special Issue Recent Advances in the Management of Rare Metabolic Bone Diseases)
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14 pages, 994 KiB  
Review
The Role of Sclerostin in Bone Diseases
by Elias S. Vasiliadis, Dimitrios-Stergios Evangelopoulos, Angelos Kaspiris, Ioannis S. Benetos, Christos Vlachos and Spyros G. Pneumaticos
J. Clin. Med. 2022, 11(3), 806; https://doi.org/10.3390/jcm11030806 - 2 Feb 2022
Cited by 17 | Viewed by 5906
Abstract
Sclerostin has been identified as an important regulator of bone homeostasis through inhibition of the canonical Wnt-signaling pathway, and it is involved in the pathogenesis of many different skeletal diseases. Many studies have been published in the last few years regarding sclerostin’s origin, [...] Read more.
Sclerostin has been identified as an important regulator of bone homeostasis through inhibition of the canonical Wnt-signaling pathway, and it is involved in the pathogenesis of many different skeletal diseases. Many studies have been published in the last few years regarding sclerostin’s origin, regulation, and mechanism of action. The ongoing research emphasizes the potential therapeutic implications of sclerostin in many pathological conditions with or without skeletal involvement. Antisclerostin antibodies have recently been approved for the treatment of osteoporosis, and several animal studies and clinical trials are currently under way to evaluate the effectiveness of antisclerostin antibodies in the treatment of other than osteoporosis skeletal disorders and cancer with promising results. Understanding the exact role of sclerostin may lead to new therapeutic approaches for the treatment of skeletal disorders. Full article
(This article belongs to the Special Issue Recent Advances in the Management of Rare Metabolic Bone Diseases)
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13 pages, 1375 KiB  
Review
Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1
by Angelos Kaspiris, Olga D. Savvidou, Elias S. Vasiliadis, Argyris C. Hadjimichael, Dimitra Melissaridou, Stella Iliopoulou-Kosmadaki, Ilias D. Iliopoulos, Evangelia Papadimitriou and Efstathios Chronopoulos
J. Clin. Med. 2022, 11(2), 444; https://doi.org/10.3390/jcm11020444 - 15 Jan 2022
Cited by 6 | Viewed by 3214
Abstract
Neurofibromatosis type 1 (NF1), which is the most common phacomatoses, is an autosomal dominant disorder characterized by clinical presentations in various tissues and organs, such as the skin, eyes and nervous and skeletal systems. The musculoskeletal implications of NF1 include a variety of [...] Read more.
Neurofibromatosis type 1 (NF1), which is the most common phacomatoses, is an autosomal dominant disorder characterized by clinical presentations in various tissues and organs, such as the skin, eyes and nervous and skeletal systems. The musculoskeletal implications of NF1 include a variety of deformities, including scoliosis, kyphoscoliosis, spondylolistheses, congenital bony bowing, pseudarthrosis and bone dysplasia. Scoliosis is the most common skeletal problem, affecting 10–30% of NF1 patients. Although the pathophysiology of spinal deformities has not been elucidated yet, defects in bone metabolism have been implicated in the progression of scoliotic curves. Measurements of Bone Mineral Density (BMD) in the lumbar spine by using dual energy absorptiometry (DXA) and quantitative computer tomography (QCT) have demonstrated a marked reduction in Z-score and osteoporosis. Additionally, serum bone metabolic markers, such as vitamin D, calcium, phosphorus, osteocalcin and alkaline phosphatase, have been found to be abnormal. Intraoperative and histological vertebral analysis confirmed that alterations of the trabecular microarchitecture are associated with inadequate bone turnover, indicating generalized bone metabolic defects. At the molecular level, loss of function of neurofibromin dysregulates Ras and Transforming Growth factor-β1 (TGF-β1) signaling and leads to altered osteoclastic proliferation, osteoblastic activity and collagen production. Correlation between clinical characteristics and molecular pathways may provide targets for novel therapeutic approaches in NF1. Full article
(This article belongs to the Special Issue Recent Advances in the Management of Rare Metabolic Bone Diseases)
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22 pages, 874 KiB  
Review
Hypophosphatasia
by Symeon Tournis, Maria P. Yavropoulou, Stergios A. Polyzos and Artemis Doulgeraki
J. Clin. Med. 2021, 10(23), 5676; https://doi.org/10.3390/jcm10235676 - 1 Dec 2021
Cited by 15 | Viewed by 4971
Abstract
Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the accumulation of its substrates, mainly inorganic pyrophosphate and pyridoxal-5′-phosphate, metabolic aberrations that largely explain the [...] Read more.
Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the accumulation of its substrates, mainly inorganic pyrophosphate and pyridoxal-5′-phosphate, metabolic aberrations that largely explain the musculoskeletal and systemic features of the disease. More than 400 ALPL mutations, mostly missense, are reported to date, transmitted by either autosomal dominant or recessive mode. Severe disease is rare, with incidence ranging from 1:100,000 to 1:300,000 live births, while the estimated prevalence of the less severe adult form is estimated to be between 1:3100 to 1:508, in different countries in Europe. Presentation largely varies, ranging from death in utero to asymptomatic adults. In infants and children, clinical features include skeletal, respiratory and neurologic complications, while recurrent, poorly healing fractures, muscle weakness and arthropathy are common in adults. Persistently low serum alkaline phosphatase is the cardinal biochemical feature of the disease. Management requires a dedicated multidisciplinary team. In mild cases, treatment is usually symptomatic. Severe cases, with life-threating or debilitating complications, can be successfully treated with enzyme replacement therapy with asfotase alfa. Full article
(This article belongs to the Special Issue Recent Advances in the Management of Rare Metabolic Bone Diseases)
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