Results 71 to 80 of about 1,116 (166)

Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy

Nefrología (English Edition)
Renal diseases associated with hypomagnesemia are a complex and diverse group of tubulopathies caused by mutations in genes encoding proteins that are expressed in the thick ascending limb of the loop of Henle and in the distal convoluted tubule. In this
Víctor M. Garcia-Nieto, Félix Claverie-Martin, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Gloria Mª Fraga-Rodríguez, María Isabel Luis-Yanes, Elena Ramos-Trujillo   +6 more
doaj   +1 more source

Bartter Syndrome Type І: A Case Report

Turkish Journal of Nephrology, 2019
Salt-losing tubulopathies with secondary hyperaldosteronism are genetic disorders that involve the thick ascending limb of Henle’s loop and the distal convoluted tubule.
Çağla Serpil DOĞAN, Salih KALAY, Arife USLU GÖKÇEOĞLU, Osman ÖZTEKİN, Mustafa KOYUN, Nihal OYGÜR, Sema AKMAN   +6 more
doaj  

Enfermedades renales que cursan con hipomagnesemia. Comentarios acerca de una nueva tubulopatía hipomagnesémica de origen genético

Nefrología
Resumen: Las enfermedades renales que cursan con hipomagnesemia son un grupo complejo y variopinto de tubulopatías producidas por mutaciones en genes que codifican proteínas que se expresan en la rama gruesa ascendente del asa de Henle y en el túbulo ...
Víctor M. Garcia-Nieto, Félix Claverie-Martin, Teresa Moraleda-Mesa, Ana Perdomo-Ramírez, Gloria Ma Fraga-Rodríguez, María Isabel Luis-Yanes, Elena Ramos-Trujillo   +6 more
doaj   +1 more source

Kidney involvement in rare hereditary diseases

Терапевтический архив
Various rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors.
Sergey V. Moiseev, Eugene M. Shilov
doaj   +1 more source

“Every Cloud Has a Silver Lining”: How Three Rare Diseases Defend Themselves from COVID-19 and What We Have Learnt from It

Clinics and Practice
The process of SARS-CoV-2 infection, responsible for the COVID-19 pandemic, is carried out through different steps, with the interaction between ACE2 and Spike protein (S) being crucial.
Martina Cacciapuoti, Ilaria Caputo, Lucia Federica Stefanelli, Paul A. Davis, Federico Nalesso, Lorenzo A. Calò   +5 more
doaj   +1 more source

Case report of glomerular histiocytosis associated with non-crystalline IgG-kappa paraproteinemia

BMC Nephrology
Background Monoclonal gammopathy of renal significance (MGRS) represents a range of disease processes arising from monoclonal proteins depositing in the kidney.
Aditya Kishore, Susanna A. McRae, David Telio, Monica C. Beaulieu   +3 more
doaj   +1 more source

A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome

Bagcilar Medical Bulletin
Inherited salt-wasting tubulopathies include antenatal Bartter syndrome (BS), classical (tip 3) BS, and Gitelman syndrome. BS is an autosomal recessive inherited syndrome associated with impaired sodium and chloride reabsorption in the renal tubule.
Demet Tosun, Sebahat Tülpar, Rümeysa Yasemin Çiçek   +2 more
doaj   +1 more source

[Nephrocalcinosis and proximal tubulopathy in Sjögren's Syndrome.]

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina), 2018
Primary Sjögren's syndrome is a systemic and chronic autoimmune disease. Renal involvement may occur in up to 30% of patients. The incidence of tubulopathies ranges from 2.6 to 33%. They are manifested by defects in the urine concentration and hydroelectrolyte alterations, mainly distal tubular acidosis and exceptionally proximal tubular acidosis ...
Diego Federico Baenas, Janet Flores Balverdi, Soledad Retamozo, Nadia Riscanevo, Ana Cecilia Álvarez, Verónica Saurit, Jorge De la Fuente, Francisco Caeiro   +7 more
openaire   +2 more sources

Valproic acid–associated proximal tubulopathy [PDF]

Kidney International, 2022
Satoru, Kudose, Marissa, Lipton, Namrata G, Jain, Vivette D, D'Agati   +3 more
openaire   +2 more sources

Editorial: Genetic Kidney Diseases of Childhood

Frontiers in Pediatrics, 2018
Miriam Schmidts, Miriam Schmidts, Max C. Liebau, Max C. Liebau, Max C. Liebau   +4 more
doaj   +1 more source