Neonatal Primary Hyperparathyroidism in Familial Hypocalciuric Hypercalcemia

Surgical management of severe neonatal hyperparathyroidism: one center's experience

“…Initially, subtotal parathyroidectomy was the procedure of choice [3,6,7,18], but owing to a significant rate of recurrence [3,7,19,20], total parathyroidectomy was adopted [20][21][22][23]. Total parathyroidectomy proved to be effective to control the disease with minimal morbidity, but lifelong calcium and vitamin D supplements were required [20,21]. To obviate the latter, total parathyroidectomy was complemented with heterotopic autotransplantation.…”

Familial Hypocalciuric Hypercalcemia in Israel: A Preliminary Report

“…Marx et al [2] identified familial hypercalcemia in 13 out of 25 patients (52%) with parathyroid hyperplasia; but only 2 patients out of the 13 (13%) with familial hypercalcemia Sporadic reports of FHH kindreds appeared from France [20][21][22], Spain [23], Norway [24], Sweden [25], Denmark [26,27], the Netherlands [16,28], Italy [29], Switzerland [30], and Japan [31][32][33][34]. This limited data suggests that FHH is prevalent in many parts of the world, but no specific conclusions can be drawn about its ethnic distribution.…”

Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism

“…12,13,18,34,165 Indeed, in 15 families with FHH, three children in two kindreds had NSHPT, suggesting that in some cases NSHPT represents the homozygous form of FHH. 12,13,18,34,165 Indeed, in 15 families with FHH, three children in two kindreds had NSHPT, suggesting that in some cases NSHPT represents the homozygous form of FHH.…”

“…Cases of NSHPT reported before about 1980 that were managed medically had a very poor prognosis and patients usually expired within 2-4 weeks of birth, 10,12,13 whereas patients who underwent parathyroidectomy had a much better prognosis. Cases of NSHPT reported before about 1980 that were managed medically had a very poor prognosis and patients usually expired within 2-4 weeks of birth, 10,12,13 whereas patients who underwent parathyroidectomy had a much better prognosis.…”

“…10 Spiegel et al first linked this entity to FHH in 1977; an infant with NSHPT was later found to have a number of relatives diagnosed with familial hypocalciuric hypercalcemia. [12][13][14][15][16][17][18] NSHPT is characterized by severe hypercalcemia, failure to thrive, respiratory distress, and skeletal anomalies. CLINICAL ASPECTS OF PRIMARY HYPERPARATHYROIDISM kindreds having FHH.…”