Clinical manifestations and frequency of hypocalcemia in 22q11.2 deletion syndrome

Fujii, Sachiko; Nakanishi, Toshio

doi:10.1111/ped.12665

Cited by 20 publications

(13 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It should be underlined that in our cohort HA patients have a greater incidence of persistent hypocalcemia suggesting, as another previous study 23 , the association between hypoparathyroidism and defective T cell immunity, and linking these alterations to a defective common organogenesis; indeed an association between persistent and recurrent hypocalcemia and thymus defects was also reported 24 .…”

Section: Methodssupporting

confidence: 75%

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Montin

Marolda

Licciardi

et al. 2019

The Journal of Allergy and Clinical Immunology: In Practice

View full text Add to dashboard Cite

show abstract

Section: Methodssupporting

confidence: 75%

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Montin

Marolda

Licciardi

et al. 2019

The Journal of Allergy and Clinical Immunology: In Practice

View full text Add to dashboard Cite

show abstract

“…Since 22q11.2 DS patients manifest tremor caused by neuromuscular abnormality and/or hypocalcemia [17] , [18] , [19] , we conducted the hanging wire grip test and measured blood calcium concentrations in Dgcr2 -KO and wild-type mice. No significant differences were found in the hanging wire grip test or blood calcium concentrations between Dgcr2 -KO and wild-type mice ( Table 1 ).…”

Section: Resultsmentioning

confidence: 99%

Abnormal gait, reduced locomotor activity and impaired motor coordination in Dgcr2 -deficient mice

Mugikura

Katoh

Watanabe

et al. 2016

Biochemistry and Biophysics Reports

View full text Add to dashboard Cite

It has been suggested that the DGCR2 gene plays a role in the pathogenesis of 22q11.2 deletion syndrome. To analyze its function, we used our Dgcr2-knock-out/EGFP-knock-in mice (Dgcr2-KO mice). At 20-26 weeks of age, approximately 20% of Dgcr2-KO mice showed gait abnormalities with trembling and difficulty in balancing. Footprint test revealed awkward movements in Dgcr2-KO mice soon after they were placed on the floor. Once they started walking, their stride lengths were not different from wild-type mice. In short-term open field test, Dgcr2-KO mice travelled a significantly shorter distance and walked more slowly than wild-type mice during the initial 5 min after being placed in a new environment. In long-term open field test, Dgcr2-KO mice exhibited reduced cage activity compared to wild-type mice on the first day, but not on later days. Dgcr2-KO mice showed reduced latency to fall in the rotarod test, and the latency was not improved in the 3-day test. Histology revealed sparseness of cerebellar Purkinje cells in Dgcr2-KO mice. Our results suggest that Dgcr2 plays a role in motor control related to Purkinje cell function and that the deficiency of DGCR2 contributes at least to some of the symptoms of patients of 22q11.2 deletion syndrome.

show abstract

“…Hypocalcemia can be transient, repetitive and permanent. It is thought that hypoparathyroidism can be prevented by treatment of hypocalcemia (12). Therefore, it will be in the best interest of patients to be aware of this not uncommon finding.…”

Section: Discussionmentioning

confidence: 99%

How Much do we Know About the Findings of 22q11.2 Deletion Syndrome?: A Single-Centre Study with 11-Year Follow-Up

Cura

Bora

Bozkaya

et al. 2020

J Basic Clin Health Sci

View full text Add to dashboard Cite

Purpose: 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with multisystem involvement characterized by cardiac defects, immunodeficiency and hypocalcemia. Variable expression and a wide range of clinical findings make it difficult for clinicians to decide on the test.Methods: Evaluation was made of the clinical findings of patients who underwent the FISH test for 22q11.2 deletion syndrome between 2006 and 2017.Results: Of the 180 patients, 152 (84.45%) had cardiac defects, 5 (2.78%) had immune defects, 132 (73.4%) had dysmorphic findings and 52 (28.89%) had growth / developmental delay. Ten patients had 22q11.2 deletion syndrome (5.56%) and 9 of these had cardiac defects. Hypocalcemia was present in 5 (50%) patients and only one patient had immunodeficiency. Conclusion:In this study, the accuracy of the indication was evaluated retrospectively based on the clinical findings of patients who underwent FISH analysis for 22q11.2 deletion syndrome. In cases with congenital cardiac defects, although 22q11.2 deletion syndrome is one of the possible diagnoses of the clinician, a detailed examination of the defect type before testing will increase the diagnosis rate. It should be kept in mind that this syndrome should be considered in the presence of major findings such as immunodeficiency or hypocalcemia.

show abstract

Clinical manifestations and frequency of hypocalcemia in 22q11.2 deletion syndrome

Abstract: In 22qDS patients, hypocalcemia was often mild and transient during childhood, but it may recur in adulthood. Routine clinical measurement of serum calcium is recommended, particularly in 22qDS patients with thymic defect or in patients who are under physical stress.

Cited by 20 publications

References 19 publications

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Abnormal gait, reduced locomotor activity and impaired motor coordination in Dgcr2 -deficient mice

How Much do we Know About the Findings of 22q11.2 Deletion Syndrome?: A Single-Centre Study with 11-Year Follow-Up

Contact Info

Product

Resources

About