Rare Genetic Kidney Diseases: Windows of Precision Nephrology
ZHANG Lei, YUE Cai, LIU Yan, CHEN Limeng
2024, 3(1): 1-11. DOI: 10.12376/j.issn.2097-0501.2024.01.001
Abstract PDF
Advancements in the Diagnosis and Treatment of Rare Kidney Diseases
CHEN Nan
2024, 3(1): 12-17. DOI: 10.12376/j.issn.2097-0501.2024.01.002
Abstract PDF
Research Progress of Monogenic Mutation in the Pathogenesis of Steroid-Resistant Nephrotic Syndrome
ZHANG Luyan, ZHENG Bixia, ZHANG Aihua
2024, 3(1): 18-29. DOI: 10.12376/j.issn.2097-0501.2024.01.003
Abstract PDF
Review and Progress in the Treatment of Renal Light Chain Amyloidosis
SHI Hao
2024, 3(1): 30-35. DOI: 10.12376/j.issn.2097-0501.2024.01.004
Abstract PDF
The Development and Current Status in the Diagnosis and Management of Tuberous Sclerosis Complex Associated with Renal Angiomyolipoma in China
WANG Wenda, ZHANG Yushi
2024, 3(1): 36-41. DOI: 10.12376/j.issn.2097-0501.2024.01.005
Abstract PDF
Using Liquid Chromatography-Tandem Mass Spectrometry in Detecting Plasma Lyso-GL3 Levels in Patients with Fabry Disease and the Association Analysis of Phenotype-Genotype of the Disease
OUYANG Yan, CHEN Bing, PAN Xiaoxia, REN Hong, XIE Jingyuan, WANG Chaohui, LI Xiao, WANG Weiming, YU Xialian, YANG Li, CHEN Nan
2024, 3(1): 42-49. DOI: 10.12376/j.issn.2097-0501.2024.01.006
Abstract PDF
Research Analysis of SLC12A3 Gene Mutation and Molecular Mechanism in Gitelman Syndrome
WANG Chunli, ZHENG Bixia, ZHOU Wei, CHE Ruochen, ZHAO Fei, ZHANG Aihua, DING Guixia
2024, 3(1): 50-56. DOI: 10.12376/j.issn.2097-0501.2024.01.007
Abstract PDF
The Analysis of Clinical Features of 186 Cases of Tuberous Sclerosis Complex-Associated Renal Angiomyolipoma
WANG Xu, WANG Wenda, ZHAO Yang, WANG Zhan, LI Yanan, ZHANG Yushi
2024, 3(1): 57-62. DOI: 10.12376/j.issn.2097-0501.2024.01.008
Abstract PDF
Genotype-Phenotype Correlation Analysis of WT1 Gene Variants in Denys-Drash Syndrome and Frasier Syndrome
CAO Yaqing, GUO Baocheng, NIE Min
2024, 3(1): 63-76. DOI: 10.12376/j.issn.2097-0501.2024.01.009
Abstract PDF
A Patient-Centric, Coordinated Care Model for Rare Diseases: The Multidisci-plinary Consultation Program at Peking Union Medical College Hospital
XIE Jing, ZHANG Shuyang
2024, 3(1): 77-78. DOI: 10.12376/j.issn.2097-0501.2024.01.010
Abstract PDF
A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement
ZHENG Hua, ZHI Yunfei, YING Lujing, ZHU Lan, JI Mingliang, LIANG Ze, WANG Jiangshan, SHI Haifeng, ZHANG Weihong, XIAO Mengsu, ZHANG Yushi, XU Kaifeng, LU Zhaohui, LIU Yaping, XU Ruiyi, ZHU Huijuan, WEN Li, ZHANG Yan, CHEN Gang, CHEN Limeng
2024, 3(1): 79-86. DOI: 10.12376/j.issn.2097-0501.2024.01.011
Abstract PDF
Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group
2024, 3(1): 87-101. DOI: 10.12376/j.issn.2097-0501.2024.01.012
Abstract PDF
New Advances in the Use of 18F-FET PET in the Diagnosis and Management of Adult High-Grade Gliomas
HAN Qingqing, LI Tuo, XING Haiqun, REN Chao, LIU Jiahui, WANG Yu, MA Wenbin, CHENG Xin, HUO Li
2024, 3(1): 102-107. DOI: 10.12376/j.issn.2097-0501.2024.01.013
Abstract PDF
Curative Effect Observation of Burosumab for Children and Adults with X-Linked Hypophosphatemicrickets
LIU Qingyang, HOU Zijing, YANG Zixia, LIU Xin, ZHANG Bo, TANG Yan
2024, 3(1): 108-113. DOI: 10.12376/j.issn.2097-0501.2024.01.014
Abstract PDF
A Case of Dent Disease in Children Presenting with Massive Proteinuria
LI Huarong, CHEN Chaoying, TU Juan, WAN Ling
2024, 3(1): 114-117. DOI: 10.12376/j.issn.2097-0501.2024.01.015
Abstract PDF
A Case Report of Surgical Resection of Tuberous Sclerosis Complex Related Renal Giant Angiomyolipoma
WANG Zhan, XIAO Yu, WANG Wenda, ZHANG Yushi
2024, 3(1): 118-123. DOI: 10.12376/j.issn.2097-0501.2024.01.016
Abstract PDF
A Case of Childhood-Onset Bartter Syndrome Type 1 with Renal Dysfunction
PENG Xiaoyan, CHEN Chaoying, YANG Hongxian, XIA Hua, TU Juan
2024, 3(1): 124-130. DOI: 10.12376/j.issn.2097-0501.2024.01.017
Abstract PDF
A Case Report of MYH9 Gene Mutation Associated with Glomerular Minor Lesion
JIN Yuanmeng, ZHANG Chunli, XU Jing, XIE Jingyuan
2024, 3(1): 131-135. DOI: 10.12376/j.issn.2097-0501.2024.01.018
Abstract PDF
The Research Progress of Visual Snow Syndrome
YU Zi, WU Yi
2024, 3(1): 136-143. DOI: 10.12376/j.issn.2097-0501.2024.01.019
Abstract PDF
Let ′Rare Disease′ Been Seen: Delving into the Building up of Resource and Information Service in Medical Libraries for Rare Diseases
DING Wenjing
2024, 3(1): 144-150. DOI: 10.12376/j.issn.2097-0501.2024.01.020
Abstract PDF
RSS Email alert

Supported by: Beijing Renhe Information Technology Co., Ltd.  Baidu Analytics