Related Experiment Video

Updated: May 31, 2026

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
07:13

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation

Published on: March 14, 2017

The A, B, C, D of hypercalcaemia in Down syndrome

Huy A Tran1, Shuzhen Song, Patricia A Crock

  • 1Hunter Area Pathology Service, Clinical Chemistry, Locked Bag 1, HRMC, Newcastle, New South Wales, 2310, Australia.

BMJ Case Reports
|June 21, 2011
PubMed

Insights

Hypercalcaemia in infants with Down syndrome is rare, presenting with high calcium levels and kidney calcification. Management involves reducing dietary calcium intake.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Hypercalcaemia in infants with Down syndrome is a rare condition, with only five previous case reports.
  • Affected individuals typically present in toddlerhood with Down syndrome, biochemical hypercalcaemia, and nephrocalcinosis.

Purpose of the Study:

  • To report the sixth case of hypercalcaemia in an infant with Down syndrome.
  • To review the clinical details and stratify diagnostic criteria for this under-recognized condition.
  • To consider the management and natural history of this condition.

Main Methods:

  • Case report presentation.
  • Literature review of previous cases.
  • Analysis of clinical details and diagnostic criteria.

Main Results:

  • The sixth case, and second male, of hypercalcaemia in an infant with Down syndrome is presented.
  • The classical triad of Down syndrome, biochemical hypercalcaemia, and nephrocalcinosis is confirmed.
  • Management strategies, including dietary calcium reduction, are discussed.

Conclusions:

  • Hypercalcaemia in Down syndrome is an under-recognized condition requiring careful diagnosis and management.
  • Reducing calcium intake is a primary management step.
  • Further consideration of the condition's natural history is warranted.

More Related Videos

Accessing the Cytotoxicity and Cell Response to Biomaterials09:46

Accessing the Cytotoxicity and Cell Response to Biomaterials

Published on: July 8, 2021

Related Concept Videos

Skeleton and Calcium Homeostasis01:21

Skeleton 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.
Introduction to Electrolytes01:33

Introduction to Electrolytes

In humans, electrolytes play a vital role in various physiological processes. Balancing electrolyte levels is essential for normal body functions; their imbalance can be life-threatening. The major electrolytes include sodium, potassium, chloride, calcium, phosphate, and bicarbonate. They are primarily involved in physiological processes, such as nerve signal transmission, membrane trafficking, muscle contraction, buffering body fluids, and balancing water levels in the body.
Role of Sodium
One...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...
Karyotyping01:17

Karyotyping

Overview
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

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...