Causes of hypocalcemia in children

Low PTH (hypoparathyroidism)

Impaired synthesis or secretion of PTH

Genetic

DiGeorge syndrome (MIM#188400, MIM #601363)
Genetic mutations interfering with the production of PTH (autosomal dominant, autosomal recessive)
HDR syndrome (hypoparathyroidism, deafness, renal anomaly, MIM #146255)
Sanjad-Sakati syndrome (MIM#241410) or Kenny-Caffey syndrome (MIM #244460, MIM #127000)
Mutations of the CaSR and related proteins (autosomal dominant hypocalcemia, MIM#601198; MIM#615361)
Mutations interfering with parathyroid gland development (X-linked; MIM #307700)
Mitochondrial disorders (eg, MELAS syndrome, MIM #540000; Kearns-Sayre syndrome, MIM #530000; mitochondrial trifunctional protein deficiency, MIM #609015)

Autoimmune

APS1 (also known as APECED syndrome, MIM #240300)

Other

Parathyroid or thyroid gland surgery
Infiltration of parathyroid gland (eg, iron overload)

High PTH

Deficient calcium intake or intestinal absorption

Deficient vitamin D intake, intestinal absorption and/or dermal synthesis

Defects in vitamin D metabolism

Hepatic dysfunction

Severe liver disease
Drugs that increase cytochrome P450 activity, which accelerate catabolism of vitamin D to inactive metabolites (eg, anticonvulsant drugs, isoniazid, and rifampin)

Kidney function impairment

Genetic disorders

25-hydroxylase deficiency (MIM#600081)
1-alpha-hydroxylase deficiency (MIM#264700, previously known as vitamin D-dependent rickets type 1 or pseudovitamin D-deficient rickets)
Increased catabolism of vitamin D (MIM #619073, due to gain-of-function variants in the CYP3A4 gene)

Defects in vitamin D action

Hereditary resistance to vitamin D (MIM#277440, previously known as vitamin D-dependent rickets type 2)

End-organ resistance to PTH (pseudohypoparathyroidism)

Type 1 (1a MIM #103580, 1b MIM #603233, and 1c MIM #612462)

Type 2 (MIM %203330)

Miscellaneous

Hungry bone syndrome

Osteopetrosis

Sepsis or acute severe illness

Hyperphosphatemia

Alkalosis

Intravenous products with citrate or lactate

Pancreatitis

Fluoride poisoning

Drugs – Bisphosphonates, denosumab, calcimimetics (cinacalcet), foscarnet, and some chemotherapeutic drugs

Hypomagnesemia (including genetic disorders, MIM #602014 and others)

APCED: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome; APS1: autoimmune polyglandular syndrome type 1; CaSR: calcium-sensing receptor; MELAS: mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; PTH: parathyroid hormone.

Graphic 53781 Version 10.0

خرید پکیج

Causes of hypocalcemia in children