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A Rare Case of Bartter Syndrome Type 3 Presenting With New-Onset Diabetes Mellitus.
Cureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Bartter syndrome is a rare genetic disorder that often presents in the early phase of life and is caused by mutations in multiple genes encoding the transporters and channels, which are responsible for the reabsorption of various ions in the nephrons. Clinically, it presents with vomiting, failure to thrive, and dehydration. Rare instances of acquired Bartter syndrome have been linked to sarcoidosis, tuberculosis, and autoimmune diseases.
View Article and Find Full Text PDFFinerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.
Am J Case Rep
November 2024
Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Article Synopsis
- - Gitelman syndrome (GS) is a rare genetic disorder leading to electrolyte imbalances, notably low potassium levels, due to a mutation in the SLC12A3 gene, affecting kidney function.
- - A 35-year-old man with GS and severe hypokalemia was treated with finerenone, a new medication that helps increase potassium levels without the adverse effects commonly seen with other treatments like spironolactone.
- - This case is significant as it represents the first reported use of finerenone for Gitelman syndrome, providing an alternative treatment option for patients unable to tolerate traditional therapies.
Congenital Adrenal Hyperplasia: Experience from Dhaka Shishu (Children) Hospital, Bangladesh.
Mymensingh Med J
October 2024
Dr Rabi Biswas, Associate Professor, Department of Pediatric Endocrinology and Metabolic Disorders, Bangladesh Institute of Child Health and Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh; E-mail:
Article Synopsis
- There is limited data on congenital adrenal hyperplasia (CAH) in Bangladesh, prompting a study to gather information and identify key issues related to the condition.
- The analysis focused on 60 pediatric patients from Dhaka Shishu Hospital, revealing that 66.7% had salt-wasting form, with significant misassignments in gender at initial presentation.
- The study highlights the need for earlier CAH diagnosis to prevent severe health crises and emphasizes raising awareness for effective case identification and referral in resource-limited settings.
Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.
Case Rep Endocrinol
August 2024
Department of Reproductive Biology Dr. Carlos Gual Castro Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 14080, Mexico.
Case: We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.
Conclusion: Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.
Gitelman syndrome with primary hyperparathyroidism: A case report.
Medicine (Baltimore)
August 2024
Division of Nephrology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Article Synopsis
- Gitelman syndrome (GS) is a rare genetic disorder causing salt loss in the kidneys, but a patient with GS was newly diagnosed with hypercalcemia and primary hyperparathyroidism (PHPT).
- The patient had a long history of low potassium and magnesium levels, and lab tests confirmed GS alongside PHPT, highlighted by parathyroid hyperplasia.
- Treatment improved her potassium levels and joint pain, but managing her magnesium levels remained difficult due to increased urinary excretion caused by PHPT.
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