Journal article
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia
European journal of medical genetics, Vol.59(4), pp.227-231
04/2016
DOI: 10.1016/j.ejmg.2016.02.001
PMID: 26855056
Abstract
Neonatal severe hyperparathyroidism (NSHPT) is a rare, life-threatening condition that presents with severe hypercalcemia, hyperparathyroidism, and osteopenia in the newborn period. Treatment of NSHPT traditionally includes hydration and bisphosphonates; however newer calcimimetic agents, such as cinacalcet, are now being utilized to prevent or delay parathyroidectomy which is technically difficult in the newborn. Medical treatment success is related to calcium sensing receptor (CaSR) genotype. We report a 4-day-old infant who presented with hyperbilirubinemia, poor feeding, weight loss, severe hypotonia and was ultimately diagnosed with NSHPT. The patient's total serum calcium level of 36.8 mg/dL (reference range: 8.5–10.4 mg/dL) is, to our knowledge, the highest ever documented in this setting. Exome data previously obtained on the infant's parents was re-analyzed demonstrating bi-parental heterozygosity for a mutation of the CASR gene: c.206G > A, and Sanger sequencing data confirmed the patient was a homozygote for the same mutation. Though a patient with the same CaSR gene mutation described here has responded to cinacalcet, our patient did not respond and required parathyroidectomy. Though this case has previously been published as a surgical case report, a full report of the medical management and underlying genetic etiology is warranted; this case underscores the importance of disclosing bi-parental heterozygosity for a gene causing severe neonatal disease particularly when treatment is available and illustrates the need for further in vitro studies of this CaSR mutation.
Details
- Title: Subtitle
- Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia
- Creators
- Heidi Murphy - Department of Pediatrics, Louisiana State University Health Science Center, USAJessica Patrick - Division of Neonatology, Department of Pediatrics, Louisiana State University Health Science Center, USAEileen Báez-Irizarry - Division of Endocrinology, Department of Pediatrics, Louisiana State University Health Science Center, USAYves Lacassie - Division of Genetics, Department of Pediatrics, Louisiana State University Health Science Center, USARicardo Gómez - Division of Endocrinology, Department of Pediatrics, Louisiana State University Health Science Center, USAAlfonso Vargas - Division of Endocrinology, Department of Pediatrics, Louisiana State University Health Science Center, USABrian Barkemeyer - Division of Neonatology, Department of Pediatrics, Louisiana State University Health Science Center, USASohit Kanotra - Division of Otorlaryngology, Department of Pediatrics, Louisiana State University Health Science Center, USARegina M Zambrano - Division of Genetics, Department of Pediatrics, Louisiana State University Health Science Center, USA
- Resource Type
- Journal article
- Publication Details
- European journal of medical genetics, Vol.59(4), pp.227-231
- Publisher
- Elsevier Masson SAS
- DOI
- 10.1016/j.ejmg.2016.02.001
- PMID
- 26855056
- ISSN
- 1769-7212
- eISSN
- 1878-0849
- Language
- English
- Date published
- 04/2016
- Academic Unit
- Stead Family Department of Pediatrics; Otolaryngology
- Record Identifier
- 9984006344002771
Metrics
19 Record Views