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Diagnostics
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Rare Diseases: Diagnosis and Management
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Rare Diseases: Diagnosis and Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Laboratory Medicine".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 2249

Special Issue Editor

Prof. Dr. Shu-Yang Zhang

E-Mail Website
Guest Editor
Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Interests: rare disease; clinical transformation research; SARS-COV-2; cardiovascular disease

Special Issue Information

Dear Colleagues,

The aim of our Special Issue is to enhance the management of patients with rare conditions. The scope of this work encompasses the latest research on the diagnosis, treatment and management of rare diseases, including advancements in technology, novel therapeutic approaches and strategies for improving patient outcomes. Through this exploration, we aim to provide a comprehensive overview of the current state of knowledge and future directions in the field of rare disease diagnosis and management.

Prof. Dr. Shu-Yang Zhang
Guest Editor

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

  • rare diseases
  • diagnosis
  • treatment
  • management
  • technology
  • therapeutics
  • patient outcomes

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

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10 pages, 650 KiB  
Article
Could PTH/Ca Ratio Serve as a New Marker for Evaluating Bone Metabolism in Hemophilia Patients?
by Tuba Ersal, Fazıl Çağrı Hunutlu, Vildan Gürsoy, Ezel Elgün, Şeyma Yavuz, İpek Dal Akkuş, İlayda Baş, Vildan Özkocaman and Fahir Özkalemkaş
Diagnostics 2025, 15(5), 638; https://doi.org/10.3390/diagnostics15050638 - 6 Mar 2025
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Abstract
Background/Objectives: Low bone mineral density (BMD) is common in hemophilia patients. Identifying high-risk patients for low BMD early is essential to prevent complications and reduce morbidity. The parathyroid hormone (PTH)/calcium (Ca) ratio is a cost-effective marker for predicting BMD, highlighting the need for [...] Read more.
Background/Objectives: Low bone mineral density (BMD) is common in hemophilia patients. Identifying high-risk patients for low BMD early is essential to prevent complications and reduce morbidity. The parathyroid hormone (PTH)/calcium (Ca) ratio is a cost-effective marker for predicting BMD, highlighting the need for routine screening and early intervention in this population. Hemophilia is a hereditary bleeding disorder caused by deficiencies in clotting factors VIII (hemophilia A) and IX (hemophilia B). Patients with hemophilia are at risk of low bone mineral density (BMD). This study aimed to evaluate the prevalence of low BMD, associated risk factors, and raise awareness regarding its significance in hemophilia patients. Methods: We retrospectively assessed bone metabolism in 62 hemophilia patients followed at our center. BMD was evaluated using dual-energy X-ray absorptiometry (DEXA). Additionally, serum levels of 25-OH-D3, alkaline phosphatase, PTH, Ca, phosphor, and creatinine were measured. The PTH/Ca, PTH/25-OH-D3, and Ca×25-OH-D3/PTH ratios were calculated. Results: The median age of the 62 patients with hemophilia included in the study (hemophilia A: 87.1%, hemophilia B: 12.9%) was 37 years (range: 21–66), and all were male. Of these patients, 67.7% (n = 42) had severe, 21% (n = 13) had moderate, and 11.3% (n = 7) had mild hemophilia. A total of 85.5% of patients were on factor prophylaxis, and 75.4% had a target joint. In laboratory analysis, the median 25-OH-D3 level was 13.4 µg/L and 75% patients had 25-OH-D3 deficiency. According to DEXA results, 62.9% had lower than normal BMD. When we divided the patients into normal and low BMD groups according to DEXA results, weight (p = 0.006), height (p = 0.024), factor levels (p = 0.004), PTH (p = 0.010), AST (p = 0.029), and PTH/Ca (p = 0.011) levels were statistically significantly different between the groups. The severity of the disease and the rate of receiving prophylaxis were higher in the group with low BMD (p = 0.015, p = 0.006, respectively). In multivariate analysis, PTH/Ca ratio and weight were found to be independent risk factors for BMD. A linear relationship was found between PTH/Ca ratio and BMD. The optimal cut-off value for PTH/Ca was 6.57, with a selectivity of 65% and specificity of 82%. When we divided the patients into groups according to the cut-off value of 6.57, we found that the probability of low BMD increased approximately 7-fold in the group with PTH/Ca > 6.57 (OR 7.045, 95% CI 1.485–33.42, p = 0.014). There was an inverse association between patient weight and low BMD (p = 0.043). Conclusions: Low BMD is a critical public health concern frequently observed in patients with hemophilia. The study highlights a high rate of low BMD and 25-OH-D3 deficiency in hemophilia patients, with the PTH/Ca ratio shown to be useful in predicting BMD. The PTH/Ca ratio is suggested as an accessible, cost-effective, and practical test for evaluating BMD in hemophilia patients. Full article
(This article belongs to the Special Issue Rare Diseases: Diagnosis and Management)
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Case Report
Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case
by Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin and Shuan-Pei Lin
Diagnostics 2025, 15(4), 464; https://doi.org/10.3390/diagnostics15040464 - 14 Feb 2025
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Abstract
Background and Clinical Significance: Mucopolysaccharidosis type VII (MPS VII), an ultrarare lysosomal storage disorder caused by β-glucuronidase deficiency, presents significant therapeutic challenges. Given its extreme rarity and limited treatment experience in Asian populations, documenting long-term treatment outcomes is crucial for advancing clinical knowledge [...] Read more.
Background and Clinical Significance: Mucopolysaccharidosis type VII (MPS VII), an ultrarare lysosomal storage disorder caused by β-glucuronidase deficiency, presents significant therapeutic challenges. Given its extreme rarity and limited treatment experience in Asian populations, documenting long-term treatment outcomes is crucial for advancing clinical knowledge and improving patient care. Case Presentation: We report a 3-year follow-up of enzyme replacement therapy (ERT) in the first Taiwanese case of MPS VII. The patient, who initially presented with hydrops fetalis and developmental delay, was diagnosed at age 4 through genetic analysis, which revealed compound heterozygous variants of c.104C > A (p.Ser35Ter) and c.1454C > T (p.Ser485Phe) on the GUSB gene. ERT with vestronidase alfa was initiated at age 6. During the follow-up period, significant clinical improvements were observed, including elimination of oxygen dependency, with BiPAP needed only during sleep; changes in mobility, with 6-min walk test distance showing an initial decline from 130 to 70 m followed by partial recovery to 95 m after multiple orthopedic surgeries; and steady progression of growth parameters showed, with height increasing from 110 to 118 cm. Urinary glycosaminoglycan (GAG) levels measured by dimethylmethylene blue spectrophotometry decreased and stabilized. The patient’s cardiac and hepatic conditions remained stable, although splenomegaly persisted. No severe adverse events were reported during ERT. Conclusions: This case demonstrates the effectiveness and safety of long-term ERT in MPS VII, particularly in improving respiratory function and physical performance. Our experience highlights the importance of early diagnosis and treatment initiation, while providing valuable insights into the management of this ultrarare disease in the Asian population. Full article
(This article belongs to the Special Issue Rare Diseases: Diagnosis and Management)
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