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Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.

Cheung EN, George SR, Costain GA, Andrade DM, Chow EW, Silversides CK, Bassett AS - Clin. Endocrinol. (Oxf) (2014)

Bottom Line: Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0.02).The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11.2DS and that there is a high recurrence rate of neonatal hypocalcaemia.Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11.2DS.

View Article: PubMed Central - PubMed

Affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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Related in: MedlinePlus

Scatterplot of 397 simultaneously obtained intact PTH and ionized calcium levels available for 116 subjects with 22q11·2DS. Most measurements (n = 364, 91·7%) were collected in adulthood. The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. The pink shaded area E represents 145 values in the normal range for both ionized calcium and PTH from 66 subjects, of whom 32 (48·5%) subjects had previously documented episodes of hypocalcaemia and 46 (69·7%) subjects had a lifetime prevalence of hypocalcaemia. Area A (low calcium and high PTH levels) has 7 measurements from 7 subjects; area B (low calcium and normal PTH levels) 153 measurements from 77 subjects; area C (low calcium and low PTH levels) 47 measurements from 21 subjects; area D (normal calcium and high PTH levels) 4 measurements from 3 subjects; area F (normal calcium and low PTH levels) 35 measurements from 23 subjects (of whom 19 (82·6%) had previously documented episodes of hypocalcaemia). Areas H (high calcium and normal PTH levels) and I (high calcium and high PTH levels) together have 6 measurements from 6 subjects, all of whom had previously documented episodes of hypocalcaemia. Area B contains 99 measurements representing relative hypoparathyroidism.
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fig01: Scatterplot of 397 simultaneously obtained intact PTH and ionized calcium levels available for 116 subjects with 22q11·2DS. Most measurements (n = 364, 91·7%) were collected in adulthood. The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. The pink shaded area E represents 145 values in the normal range for both ionized calcium and PTH from 66 subjects, of whom 32 (48·5%) subjects had previously documented episodes of hypocalcaemia and 46 (69·7%) subjects had a lifetime prevalence of hypocalcaemia. Area A (low calcium and high PTH levels) has 7 measurements from 7 subjects; area B (low calcium and normal PTH levels) 153 measurements from 77 subjects; area C (low calcium and low PTH levels) 47 measurements from 21 subjects; area D (normal calcium and high PTH levels) 4 measurements from 3 subjects; area F (normal calcium and low PTH levels) 35 measurements from 23 subjects (of whom 19 (82·6%) had previously documented episodes of hypocalcaemia). Areas H (high calcium and normal PTH levels) and I (high calcium and high PTH levels) together have 6 measurements from 6 subjects, all of whom had previously documented episodes of hypocalcaemia. Area B contains 99 measurements representing relative hypoparathyroidism.

Mentions: Subjects were considered to have a specific endocrinological condition, including hypocalcaemia, hypoparathyroidism and hypothyroidism, if it was documented in medical records and/or the laboratory measurements were outside of the reference ranges for the individual laboratory performing the respective test. Only for ease of graphic representation of intact PTH and ionized calcium levels did we use the single most common ranges: 1·3–7·6 pm and 1·2–1·35 mm, respectively (Figs1 and 2).


Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.

Cheung EN, George SR, Costain GA, Andrade DM, Chow EW, Silversides CK, Bassett AS - Clin. Endocrinol. (Oxf) (2014)

Scatterplot of 397 simultaneously obtained intact PTH and ionized calcium levels available for 116 subjects with 22q11·2DS. Most measurements (n = 364, 91·7%) were collected in adulthood. The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. The pink shaded area E represents 145 values in the normal range for both ionized calcium and PTH from 66 subjects, of whom 32 (48·5%) subjects had previously documented episodes of hypocalcaemia and 46 (69·7%) subjects had a lifetime prevalence of hypocalcaemia. Area A (low calcium and high PTH levels) has 7 measurements from 7 subjects; area B (low calcium and normal PTH levels) 153 measurements from 77 subjects; area C (low calcium and low PTH levels) 47 measurements from 21 subjects; area D (normal calcium and high PTH levels) 4 measurements from 3 subjects; area F (normal calcium and low PTH levels) 35 measurements from 23 subjects (of whom 19 (82·6%) had previously documented episodes of hypocalcaemia). Areas H (high calcium and normal PTH levels) and I (high calcium and high PTH levels) together have 6 measurements from 6 subjects, all of whom had previously documented episodes of hypocalcaemia. Area B contains 99 measurements representing relative hypoparathyroidism.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4231257&req=5

fig01: Scatterplot of 397 simultaneously obtained intact PTH and ionized calcium levels available for 116 subjects with 22q11·2DS. Most measurements (n = 364, 91·7%) were collected in adulthood. The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. The pink shaded area E represents 145 values in the normal range for both ionized calcium and PTH from 66 subjects, of whom 32 (48·5%) subjects had previously documented episodes of hypocalcaemia and 46 (69·7%) subjects had a lifetime prevalence of hypocalcaemia. Area A (low calcium and high PTH levels) has 7 measurements from 7 subjects; area B (low calcium and normal PTH levels) 153 measurements from 77 subjects; area C (low calcium and low PTH levels) 47 measurements from 21 subjects; area D (normal calcium and high PTH levels) 4 measurements from 3 subjects; area F (normal calcium and low PTH levels) 35 measurements from 23 subjects (of whom 19 (82·6%) had previously documented episodes of hypocalcaemia). Areas H (high calcium and normal PTH levels) and I (high calcium and high PTH levels) together have 6 measurements from 6 subjects, all of whom had previously documented episodes of hypocalcaemia. Area B contains 99 measurements representing relative hypoparathyroidism.
Mentions: Subjects were considered to have a specific endocrinological condition, including hypocalcaemia, hypoparathyroidism and hypothyroidism, if it was documented in medical records and/or the laboratory measurements were outside of the reference ranges for the individual laboratory performing the respective test. Only for ease of graphic representation of intact PTH and ionized calcium levels did we use the single most common ranges: 1·3–7·6 pm and 1·2–1·35 mm, respectively (Figs1 and 2).

Bottom Line: Hypomagnesaemia was associated with concurrent hypocalcaemic measurements, especially in the presence of concurrent hypoparathyroidism (P = 0.02).The results suggest that, in addition to the major effect of hypoparathyroidism, hypothyroidism may play a role in hypocalcaemia in 22q11.2DS and that there is a high recurrence rate of neonatal hypocalcaemia.Although further studies are needed, the findings support regular lifelong follow-up of calcium, magnesium, PTH and TSH levels in patients with 22q11.2DS.

View Article: PubMed Central - PubMed

Affiliation: Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

Show MeSH
Related in: MedlinePlus