Results 111 to 120 of about 1,812 (217)

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  

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome [PDF]

, 2017
Excreció; Genètica humana; MutacióExcreción; Genética humana; MutaciónExcretion; Human genetics; MutationIntroduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene,
Aguirre, Mireia, Ariceta Iraola, Gema, Chocron de Benzaquen, Sara, García Castaño, Alejandro, Madariaga, Leire, Madrid Aris, Alvaro Domingo, Pérez de Nanclares, Gustavo   +6 more
core   +1 more source

Current management of non‐amyloidosis monoclonal gammopathy of renal significance: Clinical features, treatment selections, responses and renal outcomes

British Journal of Haematology, Volume 208, Issue 1, Page 329-332, January 2026.
Daniel Cancilla, Hanny Sawaf, Xuefei Jia, Danai Dima, Ali Mehdi, Hira Shaikh, Beth Faiman, Faiz Anwer, Sandra Mazzoni, Diana Basali, Jack Khouri, Christy Samaras, Jason Valent, Shahzad Raza, Louis Williams   +14 more
wiley   +1 more source

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

Nephrocalcinosis and proximal tubulopathy in Sjögren's Syndrome.

Revista de la Facultad de Ciencias Médicas de Córdoba, 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%.
Diego Federico Baenas, Janet Flores Balverdi, Soledad Retamozo, Nadia Riscanevo, Ana Cecilia Álvarez, Verónica Saurit, Jorge De la Fuente, Francisco Caeiro   +7 more
doaj   +1 more source

Genomic profiling in rare kidney disease [PDF]

, 2023
Rare diseases (RD), generally defined by an incidence of less than 1:2000, affect about 3-6% of the population. To date, over 600 different genetic kidney diseases have been identified.
Tschernoster, Nikolai
core  

Regulated sodium transport in the renal connecting tubule (CNT) via the epithelial sodium channel (ENaC) [PDF]

, 2018
The aldosterone-sensitive distal nephron (ASDN) includes the late distal convoluted tubule 2, the connecting tubule (CNT) and the collecting duct. The appropriate regulation of sodium (Na+) absorption in the ASDN is essential to precisely match urinary ...
Korbmacher, Christoph, Loffing, Johannes
core  

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

A case report of neonatal renal pseudohypoaldosteronism type I caused by a de novo variant in the NR3C2 gene

Frontiers in Pediatrics
Pseudohypoaldosteronism type I (PHA I) is a rare hereditary disorder of mineralocorticoid resistance, with the renal form predominantly caused by NR3C2 variants.
Hongcai Ma, Huijiao Han, Yanyan Liu, Yong An   +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