Results 101 to 110 of about 53,957 (281)

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, EarlyView.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source

Renal cysts in children: a single centre study

Pediatria i Medycyna Rodzinna, 2018
Kidney cysts may be congenital (associated or not with genetic disorders) or rarely acquired. They may be an isolated abnormality or be part of an anomaly syndrome.
Anna Medyńska, Konstancja Fornalczyk, Katarzyna Kiliś-Pstrusińska, Irena Wikiera-Magott, Dominik Kubicki, Danuta Zwolińska   +5 more
doaj   +1 more source

Estudo clínico e molecular da doença renal policística autossômica dominante em duas famílias [PDF]

, 2000
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.Objetivos: Verificar a associação de variáveis clínicas para insuficiência renal crônica e a origem da mutação gênica em duas famílias portadoras de Doença Renal
Dias, Tânia Lúcia Viana
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Blood Pressure Control for Polycystic Kidney Disease

, 2015
Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent genetic kidney disease and affects 6 to 12 million patients worldwide. The disease is characterized by the progressive development of innumerable renal cysts that gradually ...

core   +1 more source

TREM2 in Macrophages Promotes Renal Fibrosis via Activation of β‐Catenin Signalling Pathway in Obstructive Nephropathy

Cell Proliferation, EarlyView.
Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) promotes obstructive nephropathy progression by activating the β‐catenin signalling pathway, driving M2 macrophage polarisation, migration and fibrogenic gene expression. targeted inhibition of TREM2 thus represents a promising novel strategy against renal fibrosis.
Jia Wei, Zixia Li, Gengyu Du, Ting Chen, Min Yang, Zhen Yuan, Yidan Zheng, Xiang Yan   +7 more
wiley   +1 more source

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History

Kidney International Reports
Introduction: Recently, the monoallelic loss-of-function IFT140 variant was identified as a causative gene for autosomal dominant polycystic kidney disease (ADPKD).
Takuya Fujimaru, Takayasu Mori, Akinari Sekine, Motoko Chiga, Shintaro Mandai, Hiroaki Kikuchi, Yutaro Mori, Yu Hara, Tamami Fujiki, Fumiaki Ando, Koichiro Susa, Soichiro Iimori, Shotaro Naito, Ryoichi Hanazawa, Akihiro Hirakawa, Toshio Mochizuki, Tatsuya Suwabe, Yoshifumi Ubara, Shinichi Uchida, Eisei Sohara   +19 more
doaj   +1 more source

Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations

, 2018
Laia Sans-Atxer,1 Dominique Joly2 1Department of Nephrology, Hospital del Mar, Institut Mar for Medical Research, Barcelona, Spain; 2Faculty of Medicine, Université Paris-Descartes, Assistance Publique-Hôpitaux de Paris, Service de Né ...
Joly D, Dominique Joly, Sans-Atxer L, Sans Atxer, Laia, Laia Sans-Atxer, Joly, Dominique   +5 more
core   +1 more source

A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease

JPGN Reports, EarlyView.
Kavya Kurkal, Girish L. Gupte
wiley   +1 more source

Bridging Kidney Organoid Innovation and Regenerative Medicine: Current Advances and Future Directions

Cell Proliferation, EarlyView.
This review outlines kidney organoid differentiation strategies, key developmental mechanisms, and engineering and multi‐omics approaches driving their progress toward regenerative medicine. ABSTRACT Chronic kidney disease (CKD) has emerged as a critical public health challenge worldwide, and organ donor shortages underscore the urgent need for ...
Bohong Guo, Jingyuan Zhang, Xuening Fang, Yangyang Liu, Yueyang Deng, Yuxin Xue, Zhengxi Wang, Xiaotao Dong, Mengqi Jia, Xiaodong Li   +9 more
wiley   +1 more source

Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

, 2010
Christian R Halvorson1, Matthew S Bremmer1, Stephen C Jacobs11Department of Surgery, University of Maryland School of Medicine, Baltimore, MD, USAAbstract: Both autosomal dominant and recessive polycystic kidney disease are conditions with severe ...
Stephen C Jacobs, Matthew S Bremmer, Christian R Halvorson   +2 more
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