Results 21 to 30 of about 1,116 (166)

Evolución de tubulopatías renales primarias diagnosticadas en edad pediátrica

Nefrología, 2021
Resumen: Antecedentes y objetivo: Las tubulopatías primarias son raras y se presentan habitualmente en la edad pediátrica. Avances recientes en diagnóstico genético y tratamiento han cambiado su historia natural.
Cristina Julia Blázquez Gómez, Helena Gil-Peña, Flor A. Ordóñez Álvarez, Fernando Santos Rodríguez   +3 more
doaj   +1 more source

Hereditary kidney diseases associated with hypomagnesemia [PDF]

Kidney Research and Clinical Practice, 2021
In the kidney, a set of proteins expressed in the epithelial cells of the thick ascending loop of Henle and the distal convoluted tubule directly or indirectly play important roles in the regulation of serum magnesium levels.
Felix Claverie-Martin, Ana Perdomo-Ramirez, Victor Garcia-Nieto   +2 more
doaj   +1 more source

Renal K+ retention in physiological circumstances: focus on adaptation of the distal nephron and cross-talk with Na+ transport systems

Frontiers in Physiology, 2023
Consumption of salt (NaCl) and potassium (K+) has been completely modified, switching from a rich-K+/low-NaCl diet in the hunter–gatherer population to the opposite in the modern, westernized population.
Samia Lasaad, Samia Lasaad, Gilles Crambert, Gilles Crambert   +3 more
doaj   +1 more source

Gitelman syndrome, hypomagnesemia, and venous thrombosis: An intriguing association

Clinical Case Reports, 2022
Among salt‐wasting tubulopathies' complications, venous thrombosis is one of the rarest. We report a case of a young woman with Gitelman syndrome (GS). She presented a deep venous thrombosis in her leg and was treated with heparin with favorable outcomes.
Soumaya Chargui, Rawnak Houli, Mondher Ounissi, Fethi Ben Hamida, Amel Harzallah, Ezzeddine Abderrahim   +5 more
doaj   +1 more source

Amyloid proximal tubulopathy: a novel form of light chain proximal tubulopathy [PDF]

Clinical Kidney Journal, 2012
Light chain proximal tubulopathy is a paraproteinemic-related kidney disease most commonly seen in patients with a plasma cell dyscrasia. The classic description is that of proximal tubules with kappa-restricted intracytoplasmic crystals in a patient with a clinical Fanconi's syndrome.
Larsen, Christopher P., Borrelli, G. Scott, Walker, Patrick D.   +2 more
openaire   +2 more sources

Mitochondrial dysfunction in diabetic tubulopathy

Metabolism, 2022
Diabetic kidney disease (DKD) is a devastating microvascular complication associated with diabetes mellitus. Recently, the major focus of glomerular lesions of DKD has partly shifted to diabetic tubulopathy because of renal insufficiency and prognosis of patients is closely related to tubular atrophy and interstitial fibrosis.
Lan, Yao, Xianhui, Liang, Yingjin, Qiao, Bohan, Chen, Pei, Wang, Zhangsuo, Liu   +5 more
openaire   +2 more sources

Severe polyhydramnios as neonatal presentation of Bartter’s syndrome type IV

Revista Brasileira de Saúde Materno Infantil, 2021
Introduction: Bartter’s syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type.
Mariana Alvarenga Hoesen Doutel Coroado, Joana Manuel Silva Fernandes Lopes Tavares, António Gonçalo Inocêncio Vila Verde, Maria do Céu Pinhão Pina Rodrigues, Liane Maria Correia Rodrigues da Costa Nogueira Silva, Sara Maria Mosca Ferreira da Silva, Maria do Céu Rocha Mota, Jorge de Sousa Braga   +7 more
doaj   +2 more sources

Resolution of proximal tubular dysfunction after liver transplantation in ATP8B1 deficiency: A case report [PDF]

JPGN Rep
Abstract Progressive familial intrahepatic cholestasis type 1 (PFIC1), caused by ATP8B1 deficiency, is a multisystem disorder with extrahepatic manifestations; however, renal involvement has rarely been described. We report a child with genetically confirmed PFIC1 who underwent living donor liver transplantation (LT) for progressive liver disease ...
Marino A, Godefroid N, De Magnée C, Stephenne X.   +3 more
europepmc   +2 more sources

Inherited Tubulopathies of the Kidney [PDF]

Clinical Journal of the American Society of Nephrology, 2020
The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes.
Mallory L. Downie, Sergio C. Lopez Garcia, Robert Kleta, Detlef Bockenhauer   +3 more
openaire   +3 more sources

Monitoring the Effects of Tenofovir Disoproxil Fumarate to Tenofovir Alafenamide Switch for Tubulotoxicity in Highly Treatment-Experienced or in Very Sick Individuals Infected with HIV

Journal of Renal and Hepatic Disorders, 2018
Tenofovir disoproxil fumarate (TDF) is a common antiretroviral utilised in the treatment of human immunodeficiency virus (HIV) and hepatitis B infections.
Nicole Marie Lioufas, Alan Street, Paul Champion de Crespigny, Stephen G Holt   +3 more
doaj   +1 more source