Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome.

Pediatric hypoparathyroidism (HPT) is caused by inherited or acquired defects involving the synthesis or secretion of PTH, resistance to PTH action, or inappropriate regulation of PTH. Several syndromes such as DiGeorge syndrome, HDR (hypoparathyroidism, sensorineural deafness and renal dysplasia) syndrome, HRD (hypoparathyroidism, retardation, and dysmorphism) syndrome, Kenny-Caffey syndrome etc. may have associated HPT. In the present communication, we describe, the hitherto unreported, occurrence of HPT in a child with partial Jacobsen syndrome. Chromosomal Microarray analysis showed a heterozygous deletion of 4.7 Mb at cytoband 11q24.3q25 encompassing approximately 20 genes including JAM3 and NTM genes. The child was treated with recombinant human parathyroid hormone (rhPTH1-34) for 10 years. Throughout follow up, he required several adjustments in dosages of rhPTH1-34 and oral calcium to maintain serum calcium concentrations in low normal ranges. The bone turnover markers remained normal and oral calcium supplements were completely taken off after 8 years. In conclusion, our single-case experience indicates that long-term therapy of chronic HPT with rhPTH1-34 is safe and reduces the need for additional therapies.

Snake bite-induced renal medullary angitiis in a child: A case report.

Snake bite envenomation is common in tropical countries during the summer. Snake bite-induced acute kidney injury (AKI) has varied histopathological manifestations such as acute cortical necrosis, acute tubular necrosis (ATN), and acute interstitial nephritis. However, snake bite-induced renal medullary angiitis has rarely been reported. We describe a nine-year-old child with AKI following viperine snake bite and renal biopsy revealed pigment cast nephropathy, ATN and medullary angiitis.

Oral prednisolone for management of persistent hypercalcemia afterhypercalcemic crisis in the Williams-Beuren syndrome.

Hypercalcemia may occur in approximately 15% of children with the Williams-Beuren syndrome. The episodes of hypercalcemic crisis usually respond well to initial hyperhydration, loop diuretics and calcitonin, bisphosphonates, or subsequent dialysis. However, many patients suffer from recurrent or persistent hypercalcemia after the resolution of the hypercalcemic crisis. Although hypercalcemia in the Williams-Beuren syndrome is generally considered transient, it may last for several months, result in significant morbidity, and compromise physical growth. There are no guidelines for the management of persistent or recurrent hypercalcemia in patients with the Williams-Beuren syndrome. In this report, we describe our experience of conducting oral corticosteroid therapy in a child with the Williams-Beuren syndrome who continued to have hypercalcemia after the resolution of the hypercalcemic crisis.