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Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.

Fisher MM, Cabrera SM, Imel EA - Endocrinol Diabetes Metab Case Rep (2015)

Bottom Line: We have successfully normalized their parathyroid hormone and alkaline phosphatase levels.Both have been successfully managed long-term without any significant adverse events.We propose that cinacalcet may be considered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children with inactivating CASR disorders.

View Article: PubMed Central - PubMed

Affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine , 705 Riley Hospital Drive, Room 5960, Indianapolis, Indiana, 46220 , USA.

ABSTRACT

Unlabelled: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q CASR mutations. Patient 1 was diagnosed at 11 months of age and had developmental delays, dysphagia, bell-shaped chest, and periosteal bone reactions. Patient 2 was diagnosed at 1 month of age and had failure to thrive, osteopenia, and multiple rib fractures. Cinacalcet was initiated at 13 months of age in patient 1, and at 4 months of age in patient 2. We have successfully normalized their parathyroid hormone and alkaline phosphatase levels. Despite the continuance of mild hypercalcemia (11-12 mg/dl), both patients showed no hypercalcemic symptoms. Importantly, patient 1 had improved neurodevelopment and patient 2 never experienced any developmental delays after starting cinacalcet. Neither experienced fractures after starting cinacalcet. Both have been successfully managed long-term without any significant adverse events. These cases expand the current literature of cinacalcet use in NSHPT to five successful reported cases. We propose that cinacalcet may be considered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children with inactivating CASR disorders.

Learning points: NSHPT due to mutations in the CASR gene occurs with hypercalcemia and metabolic bone disease, but not always with severe critical illness in infancy.NSHPT should be considered in the differential diagnosis for a newborn with a bell-shaped chest, osteopenia, and periosteal reactions.Neurodevelopmental consequences may occur in children with hypercalcemia and may improve during treatment.Calcimimetics can be used to successfully treat the pathophysiology of NSHPT directly to control serum calcium levels.

No MeSH data available.


Related in: MedlinePlus

Chest X-ray for patient 2, at 4 weeks of age, shows generalized osteopenia and numerous multilevel bony callus formations along several contiguous ribs bilaterally, suggesting healing fractures (arrows) involving ribs two to nine on the right and ribs two to seven on the left.
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fig3: Chest X-ray for patient 2, at 4 weeks of age, shows generalized osteopenia and numerous multilevel bony callus formations along several contiguous ribs bilaterally, suggesting healing fractures (arrows) involving ribs two to nine on the right and ribs two to seven on the left.

Mentions: Patient 2, a term female infant, presented at 26 days of age with failure of linear growth, poor weight gain, and cough. A chest X-ray was obtained showing multiple rib fractures. Subsequently, a skeletal survey revealed diffusely osteopenic bones with coarse trabecular markings, diffuse symmetric periosteal reactions, and healing lateral right fourth to ninth and left seventh to ninth rib fractures (Fig. 3).


Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.

Fisher MM, Cabrera SM, Imel EA - Endocrinol Diabetes Metab Case Rep (2015)

Chest X-ray for patient 2, at 4 weeks of age, shows generalized osteopenia and numerous multilevel bony callus formations along several contiguous ribs bilaterally, suggesting healing fractures (arrows) involving ribs two to nine on the right and ribs two to seven on the left.
© Copyright Policy - license
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4496565&req=5

fig3: Chest X-ray for patient 2, at 4 weeks of age, shows generalized osteopenia and numerous multilevel bony callus formations along several contiguous ribs bilaterally, suggesting healing fractures (arrows) involving ribs two to nine on the right and ribs two to seven on the left.
Mentions: Patient 2, a term female infant, presented at 26 days of age with failure of linear growth, poor weight gain, and cough. A chest X-ray was obtained showing multiple rib fractures. Subsequently, a skeletal survey revealed diffusely osteopenic bones with coarse trabecular markings, diffuse symmetric periosteal reactions, and healing lateral right fourth to ninth and left seventh to ninth rib fractures (Fig. 3).

Bottom Line: We have successfully normalized their parathyroid hormone and alkaline phosphatase levels.Both have been successfully managed long-term without any significant adverse events.We propose that cinacalcet may be considered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children with inactivating CASR disorders.

View Article: PubMed Central - PubMed

Affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine , 705 Riley Hospital Drive, Room 5960, Indianapolis, Indiana, 46220 , USA.

ABSTRACT

Unlabelled: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q CASR mutations. Patient 1 was diagnosed at 11 months of age and had developmental delays, dysphagia, bell-shaped chest, and periosteal bone reactions. Patient 2 was diagnosed at 1 month of age and had failure to thrive, osteopenia, and multiple rib fractures. Cinacalcet was initiated at 13 months of age in patient 1, and at 4 months of age in patient 2. We have successfully normalized their parathyroid hormone and alkaline phosphatase levels. Despite the continuance of mild hypercalcemia (11-12 mg/dl), both patients showed no hypercalcemic symptoms. Importantly, patient 1 had improved neurodevelopment and patient 2 never experienced any developmental delays after starting cinacalcet. Neither experienced fractures after starting cinacalcet. Both have been successfully managed long-term without any significant adverse events. These cases expand the current literature of cinacalcet use in NSHPT to five successful reported cases. We propose that cinacalcet may be considered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children with inactivating CASR disorders.

Learning points: NSHPT due to mutations in the CASR gene occurs with hypercalcemia and metabolic bone disease, but not always with severe critical illness in infancy.NSHPT should be considered in the differential diagnosis for a newborn with a bell-shaped chest, osteopenia, and periosteal reactions.Neurodevelopmental consequences may occur in children with hypercalcemia and may improve during treatment.Calcimimetics can be used to successfully treat the pathophysiology of NSHPT directly to control serum calcium levels.

No MeSH data available.


Related in: MedlinePlus