Related Experiment Video
Updated: May 22, 2026
07:13
Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
Published on: March 14, 2017
Severe hypercalcemia without hypercalciuria in a previously healthy infant.
Bradley C Clark1, Rita Fleming, Michael C Spaeder
1Department of Pediatrics, Children's Hospital at Montefiore, Bronx, NY 10467, USA. bradley.clark.md@gmail.com
Summary
Williams-Beuren syndrome (WBS) can cause severe hypercalcemia in infants. Early diagnosis and treatment with IV fluids, diuretics, and dietary changes are crucial for managing this serious complication.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Williams-Beuren syndrome (WBS) is a genetic disorder with diverse clinical manifestations.
- Hypercalcemia is a recognized, though not fully understood, endocrinologic complication of WBS.
Observation:
- A 10-month-old infant with intrauterine growth restriction presented with poor feeding and weight loss.
- Severe hypercalcemia (serum calcium 20 mg/dL) was identified in the infant.
Findings:
- The infant was diagnosed with Williams-Beuren syndrome via fluorescent in situ hybridization.
- The case highlights a severe presentation of hypercalcemia in a WBS patient.
Implications:
- Understanding the etiology of hypercalcemia in WBS is critical for targeted treatment.
- Prompt management involving IV fluids, diuretics, dietary modification, and potentially bisphosphonates is essential for WBS-associated hypercalcemia.
Related Concept Videos
00:51Synthesis and Functions of Calcitonin
Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
01:21Skeleton and Calcium Homeostasis
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.
01:25Hyperthyroidism I: Introduction
Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
01:17Hormones and Bone Tissue
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:28Urinary Tract Calculi I: Introduction
Renal calculi, or kidney stones, are solid deposits of minerals and salts formed inside the kidneys. In medical terminology, "calculus" refers to the stone itself, while "lithiasis" describes the process of stone formation. Depending on their location within the urinary system, these stones may be classified as either urolithiasis, when situated within the urinary tract, or nephrolithiasis, when located within the kidneys. Each term signifies the specific impact of the stone.Predisposition...