Orphanet Journal of Rare Diseases最新文献

{"title":"Global research dynamics in urea cycle disorders: a bibliometric study highlighting key players and future directions.","authors":"Yan Wang, Xueer Wang, Huiqin Zhang, Binhui Zhu","doi":"10.1186/s13023-025-03625-3","DOIUrl":"https://doi.org/10.1186/s13023-025-03625-3","url":null,"abstract":"<p><strong>Background: </strong>This study aims to explore the research hotspots and trends of urea cycle disorders through bibliometric analysis.</p><p><strong>Methods: </strong>Using the Web of Science Core Collection as the database, we retrieved literature published from 2007 to 2024. We utilized CiteSpace, VOSviewer, and Bibliometrix R package to conduct a bibliometric visualization analysis, including the number of publications, citation frequency, publishing countries, institutions, journals, authors, references, and keywords.</p><p><strong>Results: </strong>A total of 926 publications on UCDs were published in 318 journals by 4807 authors at 1494 institutions from 49 countries/regions. The USA had the highest number of publications and citation frequency. The Children's National Health System in the USA published the most literature. The most frequent collaboration was between the USA and Germany. The journal with the most publications was Molecular Genetics and Metabolism. The author with the most publications was Johannes Häberle. The most frequently cited reference was the 2019 publication of the revised guidelines for the diagnosis and management of UCDs. The identified future research hotspots are expected to focus on \"gene therapy\", \"mutations\" and \"efficacy\".</p><p><strong>Conclusion: </strong>This study is the first bibliometric analysis of publications in the field of UCDs. These findings suggest that European and American countries dominate UCD research, it is necessary to further strengthen global cooperation in the field of UCDs. Early detection of the disease and emerging therapies, including gene therapy, are likely to be future research hotspots.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"101"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developmental odontogenic cysts with special focus on the occurrence of multiple cysts and syndromic association: a single-centre cross-sectional study from the Czech Republic.","authors":"David Szaraz, Albert J Ksinan, Ctirad Machacek, Petra Borilova Linhartova","doi":"10.1186/s13023-025-03623-5","DOIUrl":"https://doi.org/10.1186/s13023-025-03623-5","url":null,"abstract":"<p><strong>Background: </strong>This retrospective study aims to evaluate the relative representation of individual types of developmental odontogenic cysts (DOCs), especially from the perspective of syndromic and non-syndromic multiple DOCs in the Czech population. In addition, we also summarize the previous studies on the occurrence of multiple DOCs and provide a literature review of case reports and case series on non-syndromic multiple DOCs, particularly dentigerous cysts (DCs) and odontogenic keratocysts (OKCs).</p><p><strong>Methods: </strong>The study included histologically confirmed DOCs retrieved between January 1, 2012, and August 8, 2023, at the Clinic of Maxillofacial Surgery, University Hospital Brno, Czech Republic. All specimens were re-classified according to the fifth edition of the World Health Organization Classification of Head and Neck Tumors, 2022. Patients with an uncertain histological diagnosis were excluded from the study.</p><p><strong>Results: </strong>Of a total of 377 patients, 286 had DCs, 85 OKCs, 5 orthokeratinizing odontogenic cysts (OOCs), 1 botryoid cyst, and 1 calcifying odontogenic cyst. The proportion of patients with multiple DCs in our study (6.6%) was higher than usually reported in the literature. The study also found that 100% of patients with multiple DCs did not exhibit any syndromic associations. On the other hand, 66% of multiple OKCs were associated with the Naevoid Basal Cell Carcinoma Syndrome (NBCCS) and the proportion of OKC patients with NBCCS (7%) was relatively higher than in other studies. Recurrence of OKCs was also significantly associated with NBCCS (p < 0.05). Only one patient presented with bilateral OOCs, without any association with a syndrome.</p><p><strong>Conclusion: </strong>Multiple OKCs are more likely to develop in syndromic patients, while none of the multiple DCs were associated with a syndrome. The incidence of multiple OOCs and other DOCs is extremely rare. Still, we conclude that patients with multiple DOCs should be carefully considered for examination by other specialists to rule out possible syndromic involvement.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"103"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic heterogeneity in mortality and prognosis of pulmonary alveolar proteinosis: a large-scale, global pooled analysis of individual-level data.","authors":"Junfeng Huang, Shuojia Xie, Yuewen Gao, Zikai Lin, Zhe Xu, Jinsheng Lin, Linzhi He, Gengjia Chen, Ziwen Zheng, Zhixing Xu, Jingyan Chen, Jiaming Guo, Zhile Wu, Ailing Duan, Weizhan Luo, Xinyu Song, Shiyue Li","doi":"10.1186/s13023-025-03617-3","DOIUrl":"https://doi.org/10.1186/s13023-025-03617-3","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary Alveolar Proteinosis (PAP) is a rare interstitial lung disease with diverse clinical manifestations and outcomes. However, there are limited data on the heterogeneity of PAP, as well as its prognosis, cause of death and genetic mechanisms. This study aims to elucidate mortality, prognostic features, and genetic mechanisms in patients with PAP.</p><p><strong>Methods: </strong>The individual patient data of clinical and mortality were obtained by summarizing the published cases series. Patients with PAP were classified using K-means clustering, and logistic regression identified prognostic factors affecting outcomes. Inheritance and related mechanism of PAP were described by summarizing PAP related genes and enrichment analysis.</p><p><strong>Findings: </strong>Our analysis included 3278 patients from 295 reports, with 88.6% diagnosed with idiopathic PAP (IPAP). Twelve major categories of cause were counted from 312 deaths (mortality: 9.5%), the most common of which were respiratory failure (45.8%) and lung infections (18.3%). Three symptom-related clusters were identified, and patients with multiple symptoms appeared to have worse mortality than those with single or no symptoms (p < 0.05). Non-secondary patterns (OR 2.87, p = 0.003), whole lung lavage (OR 0.15, p < 0.001), and effective GM-CSF therapy (OR 0.08, p < 0.001) are prognostic factors associated with decreased mortality. Additionally, 134 significant genes related to PAP development were identified, highlighting the roles of immune response and lipid metabolism.</p><p><strong>Interpretation: </strong>This study comprehensively describes the clinical characteristics cause of death, prognosis and associated factors based on the global PAP population. The significant phenotype heterogeneity highlighting the importance of long-term prognosis and individualized management for patients with PAP.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"102"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The prognostic value of ultrasound features and parafibromin expression in parathyroid carcinoma.","authors":"Ruifeng Liu, Liyuan Ma, Yu Xia, Luying Gao, Jiang Ji, Yuang An, Aonan Pan, Nengwen Luo, Yuxin Jiang","doi":"10.1186/s13023-025-03608-4","DOIUrl":"https://doi.org/10.1186/s13023-025-03608-4","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate prognostic factors related with parathyroid carcinoma (PC) based upon ultrasound (US) parameters and parafibromin expression.</p><p><strong>Methods: </strong>Between 2000/01 and 2022/07, thirty-four PC patients with detailed preoperative ultrasonography were enrolled in the research. Immunohistochemical staining of parafibromin was performed on pathological samples of these patients. Based on the expression of parafibromin, the cases were divided into a positive control group (parafibromin expression ≥ 10%) and a negative experimental group (parafibromin expression < 10%). The ultrasound and clinical features of the two groups were analyzed, and Cox regression was used to identify the independent prognostic factors regarding disease-free survival (DFS) and overall survival (OS).</p><p><strong>Results: </strong>Among 34 patients with parathyroid carcinoma, 26 (76.5%) were parafibromin-positive, while 8 (23.5%) were parafibromin-negative. The mean follow-up time was 72.6 (11.0-179.3) months. During the overall survival period, 7 cases (20.6%) died, and 9 cases (26.5%) experienced recurrence or metastasis. The median overall survival time (interquartile range) was 65.7 (35.5-89.7) months, and the median disease-free survival time (interquartile range) was 38.2 (22.2-69.7) months. The risk of recurrence and metastasis in the parafibromin-negative group was 5.9 times higher than that in parafibromin-positive group (95% CI 1.569-22.190). PC patients with calcification on preoperative ultrasonography had a 9.4 times higher risk of death during the overall survival period compared with patients without calcification (95% CI 1.037-85.915). However, parafibromin expression did not show a significant impact on the prognosis of the overall survival.</p><p><strong>Conclusions: </strong>Preoperative US-detected calcification within the lesion is an independent risk factor indicating the shorter OS for PC patients, while loss of parafibromin expression is significant for indicating the recurrence or metastasis of PC patients.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"100"},"PeriodicalIF":3.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic spectrum and genotype-phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.","authors":"Meihua Dong, Xu Shi, Yawen Zhou, Jielin Duan, Li He, Xiaonan Song, Zhiwen Huang, Ruchong Chen, Jing Li, Nan Jia","doi":"10.1186/s13023-025-03596-5","DOIUrl":"https://doi.org/10.1186/s13023-025-03596-5","url":null,"abstract":"<p><strong>Background: </strong>Primary ciliary dyskinesia (PCD), a rare ciliopathy disorder, is caused by variants in multiple genes, with DNAH5 being one of the most frequently implicated. However, the precise relationship between variant type or location in the DNAH5 gene and the clinical heterogeneity remains elusive. The present systematic review aims to provide critical insights into the impact of the molecular nature of DNAH5 variants on PCD phenotypes.</p><p><strong>Methods: </strong>We enrolled all reported cases of PCD with biallelic pathogenic variants in the DNAH5 gene to date, and evaluated genotype-phenotype correlations in these patients, employing truncating (TV) and missense (MV) variant-carrying as grouping criteria.</p><p><strong>Results: </strong>A total of 323 PCD patients with the DNAH5 variants were included, with 14.55% of these patients were diagnosed as Kartagener syndrome. Pediatric and adult patients exhibited distinct clinical features, including varying incidences of bronchiectasis, infertility, neonatal respiratory distress (NRD), ciliary ultrastructural defects distributions, and lung function (all p < 0.05). With regard to mutational patterns, truncating variants in DNAH5 were clustered in the 1200-3200 amino acid region, and were more prevalent in children compared to adult (p < 0.0001). Most missense variants are clustering in the linker, AAA + ATPase and AAA-lid domains. The most frequently observed mutation, c.10815delT, was prevalent in Europe and America, whereas c.8030G > A was more common in China and Asia. In terms of genotype-phenotype correlations, individuals with the TV/TV genotype exhibited a higher proportion of NRD and earlier onset compared to those with MV-carrying genotypes, both in overall population and in pediatric patients (all p < 0.05). Patients with the TV/TV genotype exhibited worse lung function compared to those with MV-carrying genotypes.</p><p><strong>Conclusion: </strong>The study underscores the broad mutational spectrum and high phenotypic heterogenicity in DNAH5-related PCD patients. The presence of biallelic truncating variants may predispose patients to earlier disease onset and poorer lung function.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"97"},"PeriodicalIF":3.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.","authors":"Kexin Xu, Guozhuang Li, Terry Jianguo Zhang, Nan Wu","doi":"10.1186/s13023-025-03615-5","DOIUrl":"10.1186/s13023-025-03615-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"98"},"PeriodicalIF":3.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study.","authors":"Yann Péréon, David Adams, Jean-Philippe Camdessanché, Jean-Baptiste Chanson, Pascal Cintas, Laurent Magy, Aïssatou Signaté, Guilhem Solé, Juliette Svahn, Céline Tard, Cyrla Hababou, Shahram Attarian","doi":"10.1186/s13023-025-03589-4","DOIUrl":"10.1186/s13023-025-03589-4","url":null,"abstract":"<p><strong>Background and aims: </strong>Hereditary transthyretin amyloidosis (ATTRv) should be considered in patients diagnosed with intravenous immunoglobulin (IVIg)-resistant chronic inflammatory demyelinating polyradiculoneuropathy (IVIg-NR CIDP). In this 1-year long, retrospective, multicentric study, an online questionnaire was sent to 1100 French healthcare professionals (HCPs) investigating: (i) how many IVIg-NR CIDP patients they followed; (ii) how many IVIg-NR CIDP patients had undergone TTR gene analysis; and (iii) how many IVIg-NR CIDP patients were eventually diagnosed with ATTRv. The questionnaire was sent every 3 months for 1 year and contained information on ATTRv clinical manifestations and diagnosis.</p><p><strong>Results: </strong>One-hundred and ten (10%) HCPs responded. A total of 2131 patients with CIDP were identified, including 315 (22.1%) with IVIg-NR CIDP. TTR gene analysis was performed in 144 patients and was positive in 43 cases (29.9%).</p><p><strong>Conclusions: </strong>This study demonstrates that ATTRv should be investigated systematically in patients diagnosed with IVIg-NR CIDP. HCP-directed information campaigns are useful for modifying diagnostic practices.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"95"},"PeriodicalIF":3.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871584/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early oxytocin treatment in infants with Prader-Willi syndrome is safe and is associated with better endocrine, metabolic and behavioral outcomes.","authors":"Marion Valette, Gwenaelle Diene, Mélanie Glattard, Julie Cortadellas, Catherine Molinas, Sandy Faye, Grégoire Benvegnu, Kader Boulanouar, Pierre Payoux, Jean-Pierre Salles, Catherine Arnaud, Sophie Çabal, Maithé Tauber","doi":"10.1186/s13023-025-03560-3","DOIUrl":"10.1186/s13023-025-03560-3","url":null,"abstract":"<p><strong>Background: </strong>Oxytocin (OT) plays an important role in modulating behavior, social interactions and feeding. Prader-Willi syndrome (PWS), a rare genetic neurodevelopmental disorder, is a model of hypothalamic disorder including OT dysfunction. We previously showed that infants with PWS who had received an early short course (7 days) of intranasal OT treatment improved their oral and social skills. We aim to document the long-term tolerance and effects of early intranasal OT treatment on the disease trajectory.</p><p><strong>Methods: </strong>We performed a comparative clinical trial including the 17 children who had received OT as infants in our previous study and compared them to 17 PWS non-exposed children at 3-4 years old. Primary endpoint was the total communication score on the Vineland Adaptive Behavior Scales-2nd edition (VABS-II). Secondary endpoints were the other domains of VABS-II, behavior scored by the Child Behavior Checklist, feeding skills, endocrine and metabolic profiles, and brain connectivity on functional magnetic resonance imaging.</p><p><strong>Results: </strong>We documented the long-term safety of early OT treatment. The VABS-II communication score was not different between the two groups, defined as OT-exposed and non-exposed, whereas a trend toward a higher socialization score was found in the OT-exposed children (p = 0.06). Circulating IGF-1 and HDL cholesterol were significantly higher in the OT-exposed group (p < 0.05). OT-exposed children had normal acylated ghrelin levels, which were lower than those observed in non-exposed children (p = 0.06), and they displayed higher connectivity of the orbitofrontal cortex brain region.</p><p><strong>Conclusion: </strong>Early OT treatment in infants with PWS is safe up to 3-4 years of age. OT-exposed children display better social, endocrine and metabolic outcomes. This study documents for the first time in human the biological window of opportunity of early OT treatment, which may change the trajectory of the PWS condition.</p><p><strong>Trial registration: </strong>Clinical trial NCT03081832 Retrospectively registered https://clinicaltrials.gov/search?cond=NCT03081832 .</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"96"},"PeriodicalIF":3.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health outcomes following COVID-19 infection and vaccination in hereditary hemorrhagic telangiectasia.","authors":"Christopher M Tarulli, Xiayi Ma, Kamalprit Chokar, Nicholas T Vozoris, Marianne S Clancy, Marie E Faughnan","doi":"10.1186/s13023-025-03561-2","DOIUrl":"10.1186/s13023-025-03561-2","url":null,"abstract":"<p><strong>Background: </strong>There has been concern that individuals living with Hereditary Hemorrhagic Telangiectasia (HHT) could be at higher risk for poor outcomes if infected with SARS-CoV2, the virus that causes COVID-19 disease. As literature is lacking on outcomes on COVID-19 infection and vaccination in HHT, the objectives of this study were to determine and assess outcomes in HHT, as well as quantify vaccination rates and vaccination side effects in a large cohort of individuals with HHT.</p><p><strong>Method: </strong>Individuals previously recruited to OUR HHT Registry at St. Michael's Hospital, Toronto were contacted for participation in this study. Data were collected during annual assessment through a series of questionnaires asking specifically about HHT complications, treatments, and symptom management, along with COVID infection and vaccination data.</p><p><strong>Results: </strong>We attempted to contact all 262 subjects recruited to the registry. Of these, 215 (82.1%) responded at least once regarding COVID-19 related inquiries between April 2020 and August 2022, and these individuals formed our study sample. Forty-nine COVID-19 infections were reported in 47/215 (21.9%) individuals. Among 47 patients with recorded COVID-19 infection, 2/47 (4.3%) required urgent care and 7/47 (14.9%) were hospitalized following infection. Of the 7 individuals who were hospitalized, 3 (42.9%) required new supplemental oxygen. Zero deaths were reported due to COVID-19 infection. COVID vaccination history was available in 147/215 (68.4%). Of these, 135/147 (91.8%) of individuals reported vaccination and side effects were mild.</p><p><strong>Discussion: </strong>While our sample population is much like the general HHT population with regards to gender, HHT symptoms, and genetics, study limitations including survivor bias, lack of vaccine effectiveness assessment, and participant reported data should be acknowledged.</p><p><strong>Conclusion: </strong>Our results suggest that HHT patients are not at higher risk of severe infection with COVID-19 compared to the general population. Vaccination rates are high with only mild side effects being observed.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"94"},"PeriodicalIF":3.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871591/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute hepatic porphyria in Denmark; a retrospective study.","authors":"Magnus Emil Ulrich Wagner, Morten Frost, Jan Frystyk","doi":"10.1186/s13023-025-03536-3","DOIUrl":"10.1186/s13023-025-03536-3","url":null,"abstract":"<p><strong>Background: </strong>Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP) and the extremely rare δ-aminolevulinic-dehydrase deficiency porphyria (ADP). This retrospective study describes characteristics of the Danish AHP patient population.</p><p><strong>Methods: </strong>Department of Endocrinology at Odense University Hospital serves as national AHP center. We performed a 5-year retrospective description of our AHP cohort using electronic patient journals. We included general symptoms, number of acute attacks, hospitalization rates, long-term sequelae and symptoms, and grouped patients according to creatinine-adjusted urinary baseline excretion (i.e., outside attacks) of the porphyrin precursor porphobilinogen (PBG) in normal-, moderate- and high-excretion and unknown.</p><p><strong>Results: </strong>The cohort contained 129 AHP patients, hereof 100 AIP, 12 HCP and 17 VP. Median age was 46.3 (32.1-62.0) years, and 85 (65.9%) were female. During the 5-years, 38 (29.5%) patients experienced symptoms. Hereof, 20 patients were hospitalized with acute attacks or chronic symptoms and treated with human hemin (n = 14). Most frequently reported symptoms were abdominal pain, nausea, vomiting, and neurological disturbances. Symptoms were more common in patients with high PBG baseline excretion (n = 39) as compared to those with moderate (n = 31) or normal (n = 40) PBG excretion (p = 0.002). Furthermore, females dominated the symptomatic group (68.4%).</p><p><strong>Conclusion: </strong>As reported internationally, AHP is more commonly diagnosed and symptomatic in women, and AIP was the most frequent AHP subtype. Those with an elevated urinary baseline PBG secretion were more likely to report AHP-related symptoms.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"93"},"PeriodicalIF":3.4,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}