Results 51 to 60 of about 1,221,013 (139)
Familial Hypokalemic Alkalosis: Gitelman’s Syndrome
Turkish Journal of Nephrology, 2019 Gitelman’s syndrome is one of the major variant of familial hypokalemic alkalosis syndromes, presenting with hypocalciuria, hypomagnesemia, and sodium and cloride wasting, which results in hyperreninemia and hyperaldosteronism.
Mesut AKÇAKAYA +5 more
doaj
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
The kidney and the balance of sulfur and nitrogen as fundamental components of pH homeostasis
Physiological Reports, Volume 14, Issue 10, May 2026.Biochemical processes involved in ammoniagenesis and regulation of pH homeostasis. Abstract The homeostasis of blood and tissue pH is fundamental for life, and pH imbalances may lead to coma and death. The regulation of the acid–base balance involves primarily the lungs and kidneys, and is strictly integrated via the endocrine and nervous systems ...
Vincenzo Graziano +3 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.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.
Muhammad Asif +7 more
wiley +1 more source
ACR Open Rheumatology, Volume 8, Issue 3, March 2026.Objective The physician global assessment of lung disease (PGALD) is a recently proposed disease activity measure for patients with systemic juvenile idiopathic arthritis–associated lung disease (SJIA‐LD). This study evaluates the reliability and construct validity of the PGALD.
Eileen Rife +70 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Iyassu S. Melkie +5 more
wiley +1 more source
The effect of sodium valproate in Cushing's disease, Nelson's syndrome and Addison's disease [PDF]
, 1988 We investigated the effect of sodium valproate on plasma ACTH and serum cortisol concentrations in different pathological states of ACTH hypersecretion.
Winkelmann, W. +4 more
core +1 more source
Physiological Reports, Volume 14, Issue 18, September 2026.
Lorenzo A. Calò +2 more
wiley +1 more source
Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Solmaz Hasani +4 more
wiley +1 more source
A Rare Case of Bartter Syndrome Type 3 Diagnosed in Elderly Age
Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.Bartter syndrome (BS) type 3 typically presents in childhood and is caused by defects in NaCl transporters of the thick ascending limb of the loop of Henle. We report a 66‐year‐old woman with asymptomatic but severe hypokalemia (2.0 mmol/L), metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Tsuyoshi Okura +6 more
wiley +1 more source