Related Experiment Video
Updated: Jun 12, 2025
08:43
Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
Published on: May 31, 2016
19.5K
Gitelman syndrome with hypercalcemia and normomagnesemia: A case report
Zhenlin Tan1, Chen Liu1,2, Zheng Feng1
1Department of Endocrinology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
Medicine
|May 29, 2025
Summary
Gitelman syndrome (GS) typically presents with low potassium and magnesium. This case highlights a rare variant of GS with hypercalcemia and normal magnesium levels, emphasizing the need for broader diagnostic awareness.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder.
- Classic GS symptoms include hypokalemia, hypomagnesemia, hypochloremic metabolic alkalosis, and hypocalciuria.
Purpose of the Study:
- To report a rare case of Gitelman syndrome presenting with hypercalcemia and normomagnesemia.
- To increase clinical awareness of atypical presentations of GS.
Main Methods:
- Case report of a patient diagnosed with Gitelman syndrome.
- Treatment involved spironolactone for potassium preservation and potassium chloride supplementation.
- Long-term follow-up and monitoring of electrolyte levels.
Main Results:
- The patient exhibited hypercalcemia and normomagnesemia, deviating from typical GS biochemical findings.
- Sustained potassium supplementation was administered for management.
Conclusions:
- Gitelman syndrome can present with atypical electrolyte disturbances, including hypercalcemia and normomagnesemia.
- Enhanced clinical vigilance is crucial for early diagnosis and effective management of GS to prevent misdiagnosis.
Related Concept Videos
01:21Skeleton and Calcium Homeostasis
4.4K
Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.
4.4K
01:24Chronic Kidney Disease II: Clinical Manifestations
2
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
2
01:15Hypoglycemia and Glucagon
206
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
206
01:21Smooth Endoplasmic Reticulum
5.7K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.7K