Results 21 to 30 of about 1,812 (217)

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

Light chain proximal tubulopathy [PDF]

Kidney International, 2009
CASE PRESENTATIONA 55-year-old Caucasian woman presented to her primary care physician with complaints of progressive fatigue for several months, dyspnea with minimal exertion, loss of appetite, 15-pound weight loss, and recurrent low-grade fevers. Past medical history was significant only for migraine headaches.
Herlitz, Leal C., Roglieri, Joseph, Resta, Regina, Bhagat, Govind, Markowitz, Glen S.   +4 more
openaire   +2 more sources

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

Adult-Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Bartter syndrome (BS) is a rare autosomal recessive salt‐wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism without hypertension. It usually presents in childhood; however, adult‐onset cases are infrequent and often misdiagnosed.
Asif M, Sanam A, Ilyas M, Tahir S, Hanif T, Khalid M, Sarwar I, Segawa F.   +7 more
europepmc   +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

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +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

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