Idiopathic infantile hypercalcemia: case report and review of the literature
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Brynn E. Marks
Abstract
The widespread use of supplemental vitamin D has dramatically reduced the incidence of rickets. While generally considered a safe practice, there is potential for toxicity in patients with idiopathic infantile hypercalcemia (IIH). Inadequate 24-hydroxylase-enzyme activity renders these individuals unable to degrade active vitamin D, resulting in hypercalcemia due to increased intestinal calcium absorption, decreased renal calcium excretion, and increased osteoclastic bone activity. Clinicians should be aware that even therapeutic doses of vitamin D can prove harmful for patients with CYP24A1 mutations. Studies have also demonstrated a link between inadequate 24-hydroxylase activity and nephrocalcinosis, renal insufficiency, and calcium containing kidney stones, further emphasizing the importance of early recognition of this disease and judicious use of vitamin D. We present a case with an interesting diagnostic algorithm used to diagnose IIH when given an incomplete history and subsequently review the existing literature on the subject.
References
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- REVIEW
- Obesity-associated sympathetic overactivity in children and adolescents: the role of catecholamine resistance in lipid metabolism
- MINI REVIEW
- Idiopathic infantile hypercalcemia: case report and review of the literature
- ORIGINAL ARTICLES
- Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
- Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
- Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
- Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
- Carotid intima media thickness in obese children: is there an association with hyperlipidemia?
- Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study
- Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series
- Urinary myo-inositol levels in Japanese schoolchildren with normal glucose tolerance
- Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
- Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
- Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
- Rare and curable renin-mediated hypertension: a series of six cases and a literature review
- CASE REPORTS
- Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
- Simultaneous occurrence of diabetic ketoacidosis, thyroid storm, and multiple cerebral infarctions due to Moyamoya disease
- Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
- Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
- Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
- Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
Articles in the same Issue
- Frontmatter
- REVIEW
- Obesity-associated sympathetic overactivity in children and adolescents: the role of catecholamine resistance in lipid metabolism
- MINI REVIEW
- Idiopathic infantile hypercalcemia: case report and review of the literature
- ORIGINAL ARTICLES
- Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment
- Effect of auditory guided imagery on glucose levels and on glycemic control in children with type 1 diabetes mellitus
- Kidney injury molecule-1 and neutrophil gelatinase associated lipocalin in normoalbuminuric diabetic children
- Use of the triglyceride to HDL cholesterol ratio for assessing insulin sensitivity in overweight and obese children in rural Appalachia
- Carotid intima media thickness in obese children: is there an association with hyperlipidemia?
- Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study
- Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before, during, and after puberty – a case series
- Urinary myo-inositol levels in Japanese schoolchildren with normal glucose tolerance
- Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome
- Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant
- Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status
- Rare and curable renin-mediated hypertension: a series of six cases and a literature review
- CASE REPORTS
- Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder
- Simultaneous occurrence of diabetic ketoacidosis, thyroid storm, and multiple cerebral infarctions due to Moyamoya disease
- Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
- Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant
- Thyrotropin-secreting pituitary adenoma in an 11-year-old boy with type 1 autoimmune polyglandular syndrome
- Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
