Results 51 to 60 of about 6,714 (210)

A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy [PDF]

, 2014
BACKGROUND: Acute hypokalaemic paralysis is characterised by acute flaccid muscle weakness and has a complex aetiological spectrum. Herein we report, for the first time, a case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic ...
Bo Yang, Qiang Dong, Wenling Tu, Ying Shen, Yuan Yang   +4 more
core   +1 more source

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

BMC Nephrology, 2020
Background Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT).
Bingzi Dong, Ying Chen, Xinying Liu, Yangang Wang, Fang Wang, Yuhang Zhao, Xiaofang Sun, Wenjuan Zhao   +7 more
doaj   +1 more source

Proximal Weakness and Hypokalemia in a Pregnant Woman: The First Presentation of Gitelman Syndrome

Case Reports in Clinical Practice, 2020
Gitelman syndrome is an inherited disorder of kidney function characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its first presentation during pregnancy might be a challenging diagnostic and management issue, as there is little data ...
Mohammad Taghi Najafi, Azam Alamdari, Pouya Mahdavi Sharif, Neda Naderi   +3 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

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, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Intriguing association between type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease: Triad of rare diseases: A case report

SAGE Open Medical Case Reports
We report the case of a patient who exhibits a concurrent diagnosis of type 1 diabetes mellitus, Gitelman syndrome and Cacci-Ricci disease. A 27-year-old male patient was diagnosed with Gitelman syndrome at the age of 3 years.
Molka Ben Bnina, Hamza Elfekih, Asma Ghorchene, Fatma Ben Abdessalem, Yosra Hasni, Molka Chadli Chaieb   +5 more
doaj   +1 more source

Gitelman′s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis

Saudi Journal of Kidney Diseases and Transplantation, 2016
Gitelman′s syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman′s syndrome has rarely been reported in literature.
Kunal Gandhi, Dharmendra Prasad, Vinay Malhotra, Dhananjai Agrawal   +3 more
doaj   +1 more source

Adult‐Onset Bartter Syndrome Presenting as Refractory Hypokalemia and Metabolic Alkalosis: A Case Report

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, Ayesha Sanam, Muhammad Ilyas, Sawera Tahir, Tahir Hanif, Muddassir Khalid, Iqra Sarwar, Fred Segawa   +7 more
wiley   +1 more source

Renal phosphate handling in Gitelman syndrome—the results of a case-control study [PDF]

, 2018
Background: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.
Albisetti, Walter, Amoruso, Chiara, Barretta, Francesco, Bettinelli, Alberto, Bianchetti, Mario, Minnici, Giuseppe, Syrèn, Marie-Louise, Viganò, Cristina   +7 more
core  

Concurrent diabetic nephropathy and C1q nephropathy in a young male patient: The first report in literature [PDF]

, 2013
Background: C1q nephropathy (C1qN) is an uncommon glomerulopathy with a significant deposition of C1q in mesangium without clinical evidence of lupus. According to the best of our knowledge, there is not any report on coincidence of diabetes mellitus and
Momeni, A., Nasri, H.
core   +2 more sources

A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene

BMC Nephrology, 2018
Background Gitelman syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Since the symptoms are not severe and laboratory results are not always clear, Gitelman syndrome can go ...
Qin Chen, Yaqin Wu, Jingya Zhao, Ying Jia, Wei Wang   +4 more
doaj   +1 more source