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Diagnostics
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Diagnosis and Management of Metabolic Bone Diseases: 2nd Edition
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Diagnosis and Management of Metabolic Bone Diseases: 2nd Edition

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 3068

Special Issue Editors

Dr. Patryk Lipiński

E-Mail Website
Guest Editor
Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS)
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Anna Tylki-Szymańska

E-Mail Website
Guest Editor
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSD)
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Diagnostics is launching a Special Issue focused on bone disorders in inborn errors of metabolism (inherited metabolic diseases).

In the group of inherited metabolic diseases, there are some diseases primarily affecting bones and presenting with prominent skeletal features, such as lysosomal storage diseases (i.e., mucopolysaccharidoses) or hypophosphatemic rickets, while in others, some alterations, such as decreased bone mass, may be secondary to nutritional deficiencies because of strict diets, inflammatory processes, or drugs, including anti-epileptic treatment.

The interest in rare diseases, especially inherited metabolic diseases, has increased significantly in recent decades. Sensitive, high-throughput diagnostic methods, along with new therapies, have appeared. This topic has become a center of interest for scientists, biochemists, geneticists, and, above all, pediatricians.

On behalf of the Editorial Office, I would like to invite you to contribute your research paper, review article, interesting case reports, and descriptions of the utility of various diagnostic and therapeutic methods for bone involvement in inherited metabolic diseases for peer review and possible publication.

Young researchers are welcome to present their achievements, and pediatricians are welcome to share their experience and insights from their clinical practice. All are invited to present newly identified bone metabolic disorders identified by next-generation sequencing. We encourage researchers to describe the advantages of new diagnostic methods as well as the pitfalls of common diagnostic methods. Also, reports of long-term follow-up of patients with inherited bone metabolic disorders, as well as their management and care ensured by multidisciplinary teams of physicians and other health providers, will be appreciated.

Dr. Patryk Lipiński
Prof. Dr. Anna Tylki-Szymańska
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. Diagnostics 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

  • inborn errors of metabolism
  • inherited metabolic diseases
  • bone metabolism/health
  • short stature
  • skeletal
  • disturbances in calcium and phosphorus metabolism
  • hypophosphatemic rickets
  • hypophosphatasia

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Published Papers (4 papers)

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Research

12 pages, 1495 KiB  
Article
Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam
by Thi Anh Thuong Tran, Tran Minh Dien, Ngoc Lan Nguyen, Khanh Ngoc Nguyen, Thi Bich Ngoc Can, Bui Phuong Thao, Nguyen Thi Thuy Hong, Van Khanh Tran, Thinh Huy Tran, Ngo Xuan Khoa, Nguyen Thi Kim Lien, Nguyen Thien Tao, Huy Hoang Nguyen and Chi Dung Vu
Diagnostics 2025, 15(7), 918; https://doi.org/10.3390/diagnostics15070918 - 2 Apr 2025
Viewed by 505
Abstract
Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by mutations in the CYP27B1 gene, leading to a deficiency in active vitamin D (1,25-dihydroxyvitamin D). This study examines the genotypic and phenotypic characteristics of VDDR1A in Vietnamese [...] Read more.
Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by mutations in the CYP27B1 gene, leading to a deficiency in active vitamin D (1,25-dihydroxyvitamin D). This study examines the genotypic and phenotypic characteristics of VDDR1A in Vietnamese children. Patients and Methods: A retrospective analysis was conducted on 19 Vietnamese children diagnosed with VDDR1A. Clinical, radiological, biochemical, and molecular data were collected. Rickets Severity Scores (RSSs), biochemical parameters, and height standard deviation scores (HtSDSs) were used to assess the severity of the condition. Results: The study included 19 children from 17 families (ten males and nine females). The median age of rickets diagnosis was 19.2 months, while with VDDR1A, the median time of diagnosis was 7.5 months. Common symptoms among the children included thickened wrists and ankles (19/19), genu varum or genu valgum (18/19), failure to thrive (18/19), rachitic rosary (12/19), and delayed walking (11/19). The radiographic features showed that all children had cupping, splaying, and fraying, twelve children had rachitic rosary, and six exhibited pseudofractures. The biochemical findings showed severe hypocalcemia, normal or mildly low serum phosphate, elevated alkaline phosphatase and parathyroid hormone levels, and normal serum 25-hydroxyvitamin D levels. Genetic analysis identified biallelic CYP27B1 variants, including one known pathogenic frameshift mutation, c.1319_1325dup p.(Phe443Profs*24), one novel likely pathogenic missense variant, c.616C>T p.(Arg206Cys), and one novel pathogenic frameshift mutation, c.96_97del p.(Ala33Thrfs*299). The c.1319_1325dup p.(Phe443Profs*24) variant was the most common, present in 18 out of 19 children. Conclusions: The children with VDDR1A in this study presented with growth failure and skeletal deformities. Key findings included severe hypocalcemia, elevated alkaline phosphatase and parathyroid hormone levels, normal or elevated 25(OH)D, and high RSSs. Predominant frameshift mutations in CYP27B1, especially c.1319_1325dup, highlighted the importance of early genetic diagnosis for optimal management. Additionally, two novel CYP27B1 variants were identified, expanding the known mutation spectrum of VDDR1A. Full article
(This article belongs to the Special Issue Diagnosis and Management of Metabolic Bone Diseases: 2nd Edition)
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17 pages, 8546 KiB  
Article
A 7T MRI Study of Fibular Bone Thickness and Density: Impact of Age, Sex and Body Weight, and Correlation with Bone Marrow Expansion and Muscle Fat Infiltration
by Talon Johnson, Jianzhong Su, Anke Henning and Jimin Ren
Diagnostics 2025, 15(5), 564; https://doi.org/10.3390/diagnostics15050564 - 26 Feb 2025
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Abstract
Background: Reduced bone mass and density, hallmark features of osteopenia and osteoporosis, significantly increase the risk of fractures, falls, and loss of mobility, especially in post-menopausal women and the elderly. Methods: This quantitative 7T MRI study examines the features of fibular bone thinning [...] Read more.
Background: Reduced bone mass and density, hallmark features of osteopenia and osteoporosis, significantly increase the risk of fractures, falls, and loss of mobility, especially in post-menopausal women and the elderly. Methods: This quantitative 7T MRI study examines the features of fibular bone thinning and bone mineral density loss (BMD) in 107 individuals (43F/64M) across various ages, body mass indices (BMIs), and ethnicities. Results: Women had significantly lower cross-sectional bone wall thickness (BT) and bone tissue area (BA), along with greater BMD loss compared to men in those over age 50 (n = 77), but not in the younger group (n = 30). The bone g-factor, defined as the ratio of inner-to-outer bone diameters, increased with bone thinning, bone marrow expansion (BME), and muscle fat infiltration (MFI) but was independent of subcutaneous fat thickness (SFT). Bone thinning and BMD loss both tend to increase with BME and MFI. Additionally, bone density decrease correlated with bone mass loss, with a stronger association observed with BT than BA. Conclusions: These findings offer insights into the effects of aging and sex on skeletomuscular health, with implications for strategies to mitigate bone loss in osteoporosis and osteosarcopenia. Full article
(This article belongs to the Special Issue Diagnosis and Management of Metabolic Bone Diseases: 2nd Edition)
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13 pages, 1405 KiB  
Article
Complex Analysis of Micronutrient Levels and Bone Mineral Density in Patients with Different Types of Osteogenesis Imperfecta
by Diana Valeeva, Karina Akhiiarova, Ildar Minniakhmetov, Natalia Mokrysheva, Rita Khusainova and Anton Tyurin
Diagnostics 2025, 15(3), 250; https://doi.org/10.3390/diagnostics15030250 - 22 Jan 2025
Viewed by 701
Abstract
Background: Osteogenesis imperfecta (OI) is a rare monogenic connective tissue disorder characterized by fragility of bones and recurrent fractures. In addition to the hereditary component, there are a number of factors that influence the course of the disease, the contribution of which is [...] Read more.
Background: Osteogenesis imperfecta (OI) is a rare monogenic connective tissue disorder characterized by fragility of bones and recurrent fractures. In addition to the hereditary component, there are a number of factors that influence the course of the disease, the contribution of which is poorly understood, in particular the levels of micronutrients. Methods: A cross-sectional study was conducted involving 45 with OI and 45 healthy individuals. The concentrations of micronutrients (calcium, copper, inorganic phosphorus, zinc, and magnesium) and bone mineral density (BMD) were evaluated in all the participants. Results: The concentrations of micronutrients in all the groups were within the reference values. In the OI overall, magnesium and copper were elevated, and phosphorus and zinc were lower. Type I exhibited higher concentrations of magnesium and copper and the lowest phosphorus; type III was associated with lower zinc, type IV with lower calcium and higher copper, and type V with the lowest phosphorus. OI overall was associated with lower BMD values. A correlational analysis in the OI group showed that the number of fractures correlated with BMD in absolute values but not with the Z-score. Conclusions: The obtained data emphasize the importance of the levels of micronutrients in the pathogenesis of connective tissue diseases, in particular OI. As in the results of previous studies, the levels of micronutrients were within the population norm, which probably requires the development of individual criteria for the content of substances in this category of patients. Full article
(This article belongs to the Special Issue Diagnosis and Management of Metabolic Bone Diseases: 2nd Edition)
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12 pages, 1120 KiB  
Article
Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate
by Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko and Anna Tylki-Szymańska
Diagnostics 2024, 14(17), 1956; https://doi.org/10.3390/diagnostics14171956 - 4 Sep 2024
Cited by 1 | Viewed by 884
Abstract
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS). There is a scarcity of literature concerning the process of growth in children with Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharidosis type I (MPS [...] Read more.
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS). There is a scarcity of literature concerning the process of growth in children with Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharidosis type I (MPS II) after HSCT. The aim of this manuscript was to evaluate the therapeutic effect of HSCT on the heights of patients with MPS I and MPS II. Material and methods: It was an observational, single-center study on patients with MPS I and II treated with HSCT. Results: 6 MPS patients, including 4 MPS I and 2 MPS II, underwent HSCT at a median age of 2 years. All patients are alive to date, with a median age of 7.7 years (range 5.5–12 years) at the last follow-up. In both (MPS I and MPS II) groups of patients treated with HSCT, the growth rate was higher than in untreated patients and was found to be in line with the population norm. In both MPS I and MPS II patients who were treated with HSCT, normalization of urinary GAG excretion was observed. Additionally, no bands of DS and HS in GAG electrophoresis were visible. Conclusions: Both MPS I and MPS II patients presented height gain after HSCT compared to the curves of untreated patients. The absence of dermatan sulphate after HSCT could lead to normal growth in bone length. Full article
(This article belongs to the Special Issue Diagnosis and Management of Metabolic Bone Diseases: 2nd Edition)
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