Limits...
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.

Show MeSH

Related in: MedlinePlus

Scatterplot of 31 intact PTH and ionized calcium levels from six subjects with 22q11·2DS and elevated intact PTH (areas A and D from Fig.1 after excluding those with values just above the norm for PTH). The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. Area labels A to I correspond to those in Figure1. At the time of elevated PTH level, subjects 1 and 2 had elevated creatinine (subject 2 also had worsening of Parkinson's disease); subject 3 had ruptured sinus of Valsalva; subjects 4 and 5 were apparently healthy, and subject 6 had a history of chronic renal insufficiency. Subject 4 was the only one of these six subjects for whom calcitriol was ever prescribed.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4231257&req=5

fig02: Scatterplot of 31 intact PTH and ionized calcium levels from six subjects with 22q11·2DS and elevated intact PTH (areas A and D from Fig.1 after excluding those with values just above the norm for PTH). The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. Area labels A to I correspond to those in Figure1. At the time of elevated PTH level, subjects 1 and 2 had elevated creatinine (subject 2 also had worsening of Parkinson's disease); subject 3 had ruptured sinus of Valsalva; subjects 4 and 5 were apparently healthy, and subject 6 had a history of chronic renal insufficiency. Subject 4 was the only one of these six subjects for whom calcitriol was ever prescribed.

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 31 intact PTH and ionized calcium levels from six subjects with 22q11·2DS and elevated intact PTH (areas A and D from Fig.1 after excluding those with values just above the norm for PTH). The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. Area labels A to I correspond to those in Figure1. At the time of elevated PTH level, subjects 1 and 2 had elevated creatinine (subject 2 also had worsening of Parkinson's disease); subject 3 had ruptured sinus of Valsalva; subjects 4 and 5 were apparently healthy, and subject 6 had a history of chronic renal insufficiency. Subject 4 was the only one of these six subjects for whom calcitriol was ever prescribed.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

fig02: Scatterplot of 31 intact PTH and ionized calcium levels from six subjects with 22q11·2DS and elevated intact PTH (areas A and D from Fig.1 after excluding those with values just above the norm for PTH). The dotted lines represent approximately normal ranges of intact PTH and ionized calcium levels. Area labels A to I correspond to those in Figure1. At the time of elevated PTH level, subjects 1 and 2 had elevated creatinine (subject 2 also had worsening of Parkinson's disease); subject 3 had ruptured sinus of Valsalva; subjects 4 and 5 were apparently healthy, and subject 6 had a history of chronic renal insufficiency. Subject 4 was the only one of these six subjects for whom calcitriol was ever prescribed.
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