Intractable & rare diseases research最新文献_第7页

Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency. 弹性假性黄瘤与心脏循环效率低下有关。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01014

Carmen Pizarro, Max Jonathan Stumpf, Luisa Staberock, Christian Alexander Schaefer, Nadjib Schahab, Georg Nickenig, Dirk Skowasch

{"title":"Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency.","authors":"Carmen Pizarro, Max Jonathan Stumpf, Luisa Staberock, Christian Alexander Schaefer, Nadjib Schahab, Georg Nickenig, Dirk Skowasch","doi":"10.5582/irdr.2023.01014","DOIUrl":"https://doi.org/10.5582/irdr.2023.01014","url":null,"abstract":"Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease characterized by dystrophic calcification of elastic fibres in the skin, retina and vascular wall. Data on cardiac involvement are inconsistent. Hence, we aimed to evaluate cardiorespiratory response to incremental cardiopulmonary exercise testing (CPET) in PXE. A total of 30 PXE patients (54.0 ± 11.2 years, 40.0% male) and 15 matched controls underwent symptom-limited incremental CPET. PXE patients presented an impaired peak work rate as compared to controls (84.2 ± 16.0% vs. 94.7 ± 10.4%, p = 0.03) that was accompanied by a lower peak oxygen uptake (in % predicted and mL/min/kg), reduced increments in oxygen uptake per increments of work rate (ΔV´O2/ΔWR, 8.4 ± 3.0 mL/min/W vs. 11.3 ± 4.9 mL/ min/W, p = 0.02), lower peak oxygen pulse (78.0 ± 12.3% vs. 90.6 ± 19.6%, p = 0.01) and reduced minute ventilation at peak exercise (V´E, 66.2 ± 16.8% vs. 82.9 ± 25.2%, p = 0.02). To summarize, we presently observed impairment in mainly cardiocirculatory parameters, whilst no substantial ventilatory limitation was detected. The potential implications of this finding for PXE management warrant further study.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"126-128"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242397/pdf/irdr-12-126.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9597271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01003

Irune García, Oscar Martínez, Juan Francisco López-Paz, Monika Salgueiro, Alicia Aurora Rodríguez, Janire Zorita, Maddalen García-Sanchoyerto, Imanol Amayra

{"title":"Health-related quality of life (HRQoL) and psychological impact of the COVID-19 pandemic on patients with myasthenia gravis.","authors":"Irune García, Oscar Martínez, Juan Francisco López-Paz, Monika Salgueiro, Alicia Aurora Rodríguez, Janire Zorita, Maddalen García-Sanchoyerto, Imanol Amayra","doi":"10.5582/irdr.2023.01003","DOIUrl":"https://doi.org/10.5582/irdr.2023.01003","url":null,"abstract":"The aim of this study was to compare the effects of the pandemic on health-related quality of life (HRQoL), anxious-depressive symptoms, feelings of loneliness, and fear of COVID-19 between people with myasthenia gravis (MG) and healthy controls. We also wanted to know in which group the variable fear of COVID-19 interfered the most with the results. This cross-sectional study involved 60 people with MG and 60 healthy controls. Participants using an online platform completed a sociodemographic questionnaire, the Short Form-36 Health Survey (SF-36), the Hospital Anxiety and Depression Scale (HADS), the revised UCLA Loneliness Scale and the Fear of COVID19 Scale (FCV- 19S). The MG group reported worse levels in HRQoL indicators (p = 0.043- <.001), more severe anxiety-depressive symptoms (p = 0.002), and greater fear of COVID-19 (p < 0.001), but there were no differences in feelings of loneliness (p = 0.002). Furthermore, after controlling for the effect of the fear of COVID-19 variable, the differences remained for physical health indicators, but not for the most of psychosocial indicators (Social Functioning p = 0.102, η2p = 0.023; Role Emotional p = 0.250, η2p = 0.011; and HADS Total p = 0.161, η2p = 0.017). The harmful effect of the COVID-19 pandemic was greater in the MG group, and the perceived fear of COVID-19 had also a greater impact among this group, which has increased its negative effect on their psychosocial health.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"88-96"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242395/pdf/irdr-12-88.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9971643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of the efficacy and safety of pegloticase for the treatment of chronic refractory gout through meta-analysis. 通过荟萃分析评价pegloticase治疗慢性难治性痛风的疗效和安全性。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2022.01131

Tianci Fan, Yifan Wang, Tongqing Song, Yan Sun

{"title":"Evaluation of the efficacy and safety of pegloticase for the treatment of chronic refractory gout through meta-analysis.","authors":"Tianci Fan, Yifan Wang, Tongqing Song, Yan Sun","doi":"10.5582/irdr.2022.01131","DOIUrl":"https://doi.org/10.5582/irdr.2022.01131","url":null,"abstract":"Gout is the most common arthritis that affects more than 2% of adults in developed countries. 3% to 4% of gout is chronic refractory gout. Conventional treatments are considered invalid. A new drug, pegloticase is used to treat chronic refractory gout, and there are still many questions about efficacy and safety. We searched PubMed, web of science, and the Cochrane Library. Preprints and references of related literature were also considered. Related efficacy and safety indicators were statistically analyzed by Review Manager 5.4 to conduct meta-analysis. A total of one article and one clinical trial were included. Pegloticase is able to reduce serum uric acid and reduce tender joints, thereby improving joint function. But pegloticase has more adverse events. Pegloticase can be used to treat chronic refractory gout. However, Pegloticase has a higher risk of adverse events. Considering the efficacy and safety, the scope of clinical applications of pegloticase can be further widened in patients in good medical condition.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"114-117"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242394/pdf/irdr-12-114.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9590921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia. 印度尼西亚智力残疾和多种先天性异常的遗传诊断方法。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01001

Nydia Rena Benita Sihombing, Tri Indah Winarni, Nicole de Leeuw, Bregje van Bon, Hans van Bokhoven, Sultana Mh Faradz

{"title":"Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.","authors":"Nydia Rena Benita Sihombing, Tri Indah Winarni, Nicole de Leeuw, Bregje van Bon, Hans van Bokhoven, Sultana Mh Faradz","doi":"10.5582/irdr.2023.01001","DOIUrl":"https://doi.org/10.5582/irdr.2023.01001","url":null,"abstract":"Intellectual disability (ID) and multiple congenital anomalies (MCA) are major contributors to infant mortality, childhood morbidity, and long-term disability, with multifactorial aetiology including genetics. We aim to set a diagnostic approach for genetic evaluation of patients with ID and MCA, which can be applied efficiently with a good diagnostic rate in Indonesia or other low resources settings. Out of 131 ID cases, twenty-three individuals with ID/global developmental delay (GDD) and MCA were selected from two-steps of dysmorphology screening and evaluation. Genetic analysis included chromosomal microarray (CMA) analysis, targeted panel gene sequencing, and exome sequencing (ES). CMA revealed conclusive results for seven individuals. Meanwhile, two out of four cases were diagnosed by targeted gene sequencing. Five out of seven individuals were diagnosed using ES testing. Based on the experience, a novel and comprehensive flowchart combining thorough physical and dysmorphology evaluation, followed by suitable genetic tests is proposed as a diagnostic approach to elucidate the genetic factor(s) of ID/GDD and MCA in low resources settings such as Indonesia.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"104-113"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242398/pdf/irdr-12-104.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9603140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

End-stage renal disease due to retroperitoneal fibrosis in neurofibromatosis type I. I型神经纤维瘤病腹膜后纤维化引起的终末期肾脏疾病。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01018

Luis Guilherme Ramanzini, Luís Fernando Muniz Camargo, Thaís Lorrany Oliveira Caixeta, Rafael Cardoso Louzada, Julia Maria Frare

{"title":"End-stage renal disease due to retroperitoneal fibrosis in neurofibromatosis type I.","authors":"Luis Guilherme Ramanzini, Luís Fernando Muniz Camargo, Thaís Lorrany Oliveira Caixeta, Rafael Cardoso Louzada, Julia Maria Frare","doi":"10.5582/irdr.2023.01018","DOIUrl":"https://doi.org/10.5582/irdr.2023.01018","url":null,"abstract":"Retroperitoneal fibrosis (RF) commonly leads to renal impairment due to compression of ureters, and around 8% of patients eventually progress to end-stage renal disease (ESRD). We present a case of RF in a 61-year-old female patient with neurofibromatosis type 1 (NF1) who developed ESRD. She presented with a postrenal acute kidney injury, being initially treated with an ureteral catheter. A magnetic resonance imaging of the abdomen showed parietal thickening of the right ureter, and she underwent right ureter reimplantation through bladder flap and psoas hitch. There was an extensive area of fibrosis and inflammation over the right ureter. Biopsy disclosed nonspecific fibrosis, which was consistent with RF. Although the procedure was successful, she developed ESRD. We review atypical presentations of RF and causes of renal injury in NF1. RF should be considered a possible cause of chronic kidney disease in patients with NF1, perhaps due to an unknown underlying mechanism.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"129-131"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242389/pdf/irdr-12-129.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9603142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A very rare cause of leukoencephalopathy: Lymphomatosis cerebri. 脑白质病的一个非常罕见的病因:脑淋巴瘤病。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2022.01134

Maurizio Giorelli, Sergio Altomare, Maria Stella Aniello, Maria Carmela Bruno, Ruggiero Leone, Daniele Liuzzi, Giuseppe Ingravallo, Pasquale Di Fazio, Tommaso Scarabino, Giuseppe Tarantini

{"title":"A very rare cause of leukoencephalopathy: Lymphomatosis cerebri.","authors":"Maurizio Giorelli, Sergio Altomare, Maria Stella Aniello, Maria Carmela Bruno, Ruggiero Leone, Daniele Liuzzi, Giuseppe Ingravallo, Pasquale Di Fazio, Tommaso Scarabino, Giuseppe Tarantini","doi":"10.5582/irdr.2022.01134","DOIUrl":"https://doi.org/10.5582/irdr.2022.01134","url":null,"abstract":"Leukoencephalopathy is a common finding on Magnetic Resonance Imaging (MRI), particularly in the elderly. A differential diagnosis may represent a very bet for clinicians when clear elements for diagnosis are lacking. Diffuse infiltrative \"non mass like\" leukoencephalopathy on MRI may represent the presentation of a very rare aggressive condition known as lymphomatosis cerebri (LC). The lack of orienting data, such as contrast enhancement on MRI or specific findings on examination of Cerebrospinal Fluid (CSF) or blood tests, may even far more complicate such a difficult diagnosis and orientate toward a less aggressive but time-losing mimic. A 69-old man initially presented to the Emergency Department (ED) complaining the recent appearance of unsteady walking, limitation of down and upgaze palsy, and hypophonia. Brain MRI revealed the presence of multiple, confluent hyperintense lesions on T2/Flair Attenuated Imaging Recovery (FLAIR) sequences involving either the withe matter of the semi-oval centres, juxtacortical structures, basal ganglia, or bilateral dentate nuclei. DWI sequences showed a wide restriction signal in the same brain regions but without any sign of contrast enhancement. Initial 18F-labeled fluoro-2-deoxyglucose positron emission tomography (FDG PET) and CSF studies were not relevant. Brain MRI revealed a high choline-signal, abnormal Choline/ N-Acetyl-Aspartate (NAA), and Choline/Creatine (Cr) ratios, as well as reduced NAA levels. Finally, a brain biopsy revealed the presence of diffuse large B-cell lymphomatosis cerebri. The diagnosis of lymphomatosis cerebri remains elusive. The valorisation of brain imaging may induce clinicians to suspect such a difficult diagnosis and go through the diagnostic algorithm.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"118-121"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242392/pdf/irdr-12-118.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9971644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Urogenital sinus malformation: From development to management. 泌尿生殖窦畸形:从发育到治疗。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01027

Yu Ding, Yaping Wang, Yiqing Lyu, Hua Xie, Yichen Huang, Min Wu, Fang Chen, Zhongzhong Chen

引用次数: 0

Telotristat Etiprate alleviates rheumatoid arthritis by targeting LGALS3 and affecting MAPK signaling. Telotristat Etiprate通过靶向LGALS3和影响MAPK信号通路缓解类风湿关节炎。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01121

Ling Zhang, Yanwen Lin, Xinrui Xu, Huihui Liu, Xiangyu Wang, Jihong Pan

{"title":"Telotristat Etiprate alleviates rheumatoid arthritis by targeting LGALS3 and affecting MAPK signaling.","authors":"Ling Zhang, Yanwen Lin, Xinrui Xu, Huihui Liu, Xiangyu Wang, Jihong Pan","doi":"10.5582/irdr.2022.01121","DOIUrl":"https://doi.org/10.5582/irdr.2022.01121","url":null,"abstract":"Rheumatoid arthritis (RA) is one of the most widespread chronic immune-mediated inflammatory diseases characterized by continuous erosion of bone and cartilage by synovial hyperplasia. Telotristat Etiprate is an inhibitor of tryptophan hydroxylase, a rate-limiting enzyme in the biosynthesis of serotonin. Telotristat Etiprate can be used in the treatment of carcinoid syndrome. The purpose of this study was to explore the effect of Telotristat Etiprate on RA and its mechanism. We investigated Telotristat Etiprate in collagen-induced arthritis (CIA) model mice and in rheumatoid arthritis synovial fibroblasts (RASFs). Results showed that Telotristat Etiprate had anti-inflammatory effects both in vitro and in vivo, can inhibit the invasion and migration of cells, inhibit the formation of pannus, and induce cell apoptosis. Transcriptome sequencing (RNA-seq) and mass spectrometry analysis showed that Galectins-3 (LGALS3) could be a newly identified target of Telotristat Etiprate, affecting the phosphorylation of the MAPK signaling pathway through UBE2L6, thereby improving RA.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 1","pages":"45-57"},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976094/pdf/irdr-12-45.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9410780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Treat to target and tight control: Could be a new approach in the treatment of sarcoidosis? 靶向治疗和严格控制:可能是结节病治疗的新途径吗?

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01123

Senol Kobak

{"title":"Treat to target and tight control: Could be a new approach in the treatment of sarcoidosis?","authors":"Senol Kobak","doi":"10.5582/irdr.2022.01123","DOIUrl":"https://doi.org/10.5582/irdr.2022.01123","url":null,"abstract":"Sarcoidosis is a chronic granulomatous disease with multisystemic involvement. Although it is accepted as a benign disease, it can sometimes cause life-threatening organ (heart, brain) involvement that determines the prognosis of the disease. There are conflicting opinions about the treatment of the disease. In the generally accepted treatment approach the \"step-by-step\" model has gained weight. According to this approach, corticosteroids (CS) drugs alone are preferred in the first step in patients who require treatment. In the second step, immunosuppressive drugs (IS) are used in patients who do not respond to CS and/or have contraindications to CS use, and biologics (TNF-alpha inhibitors) are used in the third step. This treatment approach may be valid in cases with mild sarcoidosis. However, although sarcoidosis is considered a benign and self-limiting disease in some major organ involvement, the \"step-by-step\" approach may be a treatment option that puts the patient's life in danger. In such selected patients, much more rigorous, early and combined treatment approaches that definitely include CS, IS or biologic drugs may be required. In selected sarcoidosis patients with high risk, early diagnosis, \"treat-to-target\" (T2T) and \"tight control\" follow-up of patients seems to be a rational approach. This article reviews the \"step-down\" treatment regimens in light of recent literature data and hypothesizes that the T2T model may be a probable new treatment approach in patients with sarcoidosis.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 1","pages":"22-28"},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976097/pdf/irdr-12-22.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10281618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Dent disease manifesting as nephrotic syndrome. 表现为肾病综合征的凹痕病。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01125

Qiaoping Chen, Yongzhen Li, Xiaochuan Wu

{"title":"Dent disease manifesting as nephrotic syndrome.","authors":"Qiaoping Chen, Yongzhen Li, Xiaochuan Wu","doi":"10.5582/irdr.2022.01125","DOIUrl":"https://doi.org/10.5582/irdr.2022.01125","url":null,"abstract":"Dent disease is an X-linked recessive renal tubular disorder, which is mainly caused by mutations of the CLCN5 gene and OCRL gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis or nephrolithiasis, and progressive renal failure. Nephrotic syndrome is a glomerular disorder characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. In this study, we report two cases of Dent disease manifesting as nephrotic syndrome. Two patients were initially diagnosed with nephrotic syndrome due to edema, nephrotic range proteinuria, hypoalbuminemia, and hyperlipidemia, and responded to prednisone and tacrolimus therapy. Genetic testing revealed mutations in the OCRL and CLCN5 genes. They were eventually diagnosed with Dent disease. Nephrotic syndrome is a rare and insidious phenotype of Dent disease, and its pathogenesis is not fully understood. Patients with nephrotic syndrome are recommended to routinely undergo urinary protein classification and urinary calcium testing, especially those with frequently recurrent nephrotic syndrome and poor response to steroid and immunosuppressive therapy. To date, there is no effective drug treatment for Dent disease. About 30% to 80% of patients progress to end-stage renal disease at the age of 30-50.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 1","pages":"67-70"},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976091/pdf/irdr-12-67.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9410781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0