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Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy |
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| Authors: | Abhishek Kulkarni Mahesh Mohite Ramaa Vijaykumar Prasanna Bansode Sachin Murade Parag M. Tamhankar |
| Affiliation: | 1. Department of Pediatrics & Adolescent Endocrinology, Jaslok Hospital & Research Centre, Mumbai, India 2. Department of Pediatrics, Sai Child Care Centre, Panvel, Navi Mumbai, India 3. Department of Pediatrics, LTMGH & Sion Hospital, Mumbai, India 5. 22/701, Satnam Paradise, Near Tulsidham, Ghodbunder Road, Thane (West), 400607, Mumbai, India 4. ICMR Genetic Research Centre, NIRRH, Mumbai, India |
| Abstract: | The authors report a 14-d-old neonate who presented with lethargy, polyuria and dehydration and was found to have severe hypercalcemia with hyperparathyroidism. This neonate was treated with saline hydration, diuresis and injection pamidronate. Genetic analysis revealed a compound heterozygous mutation of CaSR. |
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