Pediatric Hyperparathyroidism Clinical Presentation
- Author: Gordon L Klein, MD, MPH; Chief Editor: Stephen Kemp, MD, PhD more...
History
Patients with primary hyperparathyroidism commonly present without symptoms. Hyperparathyroidism may be diagnosed in an otherwise asymptomatic patient by incidental discovery during routine blood chemistry analysis of hypercalcemia.
Symptoms of early disease, when present, are specific to hypercalcemia. They include muscle weakness, depression, increased sleepiness, nausea, vomiting, acute abdominal pain (which might be the result of pancreatitis), constipation, and polydipsia. Frequent and occasionally painful urination and dysuria and/or back pain may be observed, the latter from nephrolithiasis. The most common presenting symptoms of the 10 children reported by Libansky et al included urolithiasis, nephrolithiasis, nephrocalcinosis, and bone resorption, as well as fatigue and muscle weakness.[6] If multiple endocrine neoplasia type I (MEN 1) is present, peptic ulcer disease, hypertension, or both may be noted.[9]
Patients with secondary hyperparathyroidism usually present with a history of underlying disease such as renal or intestinal conditions. Symptoms are musculoskeletal in nature, including bone pain, muscle weakness, and previous fracture.
Physical
Findings in primary hyperparathyroidism include the following:
- Signs of dehydration due to hypercalcemia, such as tenting of skin, prolonged capillary refill time, and dry mucous membranes
- Bradycardia, with or without irregular heartbeat
- Decreased muscle tone and somnolence
Findings in secondary hyperparathyroidism include the following:
- Skeletal deformity
- Decreased muscle tone
- Bone pain on palpation
Causes
Primary hyperparathyroidism is caused by a genetic mutation.
Secondary hyperparathyroidism may develop as a response to hypocalcemia caused by intestinal disease resulting in calcium and vitamin D malabsorption.
- Chronic renal insufficiency
- Insufficient vitamin D and calcium intake: Insufficient intake in children may cause rickets. Although this is not as common in the United States, rickets are a major cause of secondary hyperparathyroidism in developing countries, especially those countries in which children are kept out of the sun while parents work. Moreover, a growing body of data suggest that many children and adolescents, especially in northern climates, are vitamin D insufficient and have a serum level of 25-hydroxyvitamin D between 20-30 ng/mL. Levels in this range are associated with increased circulating intact parathyroid hormone (PTH).
- Cholestatic liver disease: Contrary to previous belief, not all children with chronic cholestatic liver disease have secondary hyperparathyroidism. Many of these patients, as well as adults with chronic liver disease, have levels of PTH within the reference range.
- Iatrogenic causes: Iatrogenic causes, such as lithium administration, may decrease the ability of circulating levels of calcium that are within the reference range to suppress PTH secretion. The mechanism for this is not presently clear.
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