Congenital hyperinsulinism of infancy in a child with autosomal dominant hypocalcaemia type 1 due to an activating calcium sensing receptor mutation

2019 ◽  
Author(s):  
Ana Sastre ◽  
Pratik Shah ◽  
Evelien Gevers
Keyword(s):  
Autosomal Dominant ◽  
Congenital Hyperinsulinism ◽  
Calcium Sensing Receptor ◽  
Calcium Sensing

scholarly journals A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy

2021 ◽  
Vol 2021 ◽  
Author(s):  
Diana Festas Silva ◽  
Adriana De Sousa Lages ◽  
Joana Serra Caetano ◽  
Rita Cardoso ◽  
Isabel Dinis ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Standard Therapy ◽  
Autosomal Dominant ◽  
Human Parathyroid Hormone ◽  
Calcium Sensing Receptor ◽  
Activating Mutations ◽  
Calcium Sensing ◽  
Clinical Stability ◽  
Autosomal Dominant Hypocalcemia

Summary Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D. We report a case of hypoparathyroidism in an adolescent affected by syncope without prodrome. The genetic testing revealed a variant in the CASR gene. Due to standard therapy ineffectiveness, the patient was treated with recombinant human parathyroid hormone (1–34), magnesium aspartate and calcitriol. He remained asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to achieve clinical stability. Learning points Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (CASR) gene. The variant c.368T>C (p.Leu123Ser) in heterozygosity in the CASR gene is likely pathogenic and suggests the diagnosis of ADH type 1. Teriparatide (recombinant human parathyroid hormone 1–34) may be a valid treatment option to achieve clinical stability for those individuals whose condition is poorly controlled by current standard therapy.

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