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August 1982, Vol 136, No. 8 >
Article | August 1982

Neonatal Primary Hyperparathyroidism in Familial Hypocalciuric Hypercalcemia FREE

Masafumi Matsuo, MD; Kazuhiko Okita, MD; Hisao Takemine, MD; Takuo Fujita, MD
[+] Author Affiliations

Reprint requests to Division of Neonatology, Kobe Children's Hospital, 1-1-1 Takakuradai, Suma-ku, Kobe 654, Japan (Dr Matsuo).


Am J Dis Child. 1982;136(8):728-731. doi:10.1001/archpedi.1982.03970440072021.
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• A Japanese female neonate exhibiting severe respiratory distress was found to have primary hyperparathyroidism. Features included demineralization of the bones, hypercalcemia, hypophosphatemia, and elevated levels of parathyroid hormone, together with marked, generalized aminoaciduria. Four enlarged parathyroid glands were surgically removed, and remineralization of the bones was noticed after the operation. The characteristic pathologic change of the glands was chief cell hyperplasia. A survey of the family identified three other hypercalcemic but asymptomatic relatives. The mode of inheritance was autosomal dominant. This patient seems to be the second neonate with familial hypocalciuric hypercalcemia to be described in the literature.

(Am J Dis Child 1982:136:728-731)

REFERENCES

1 +
Marx SJ, Spiegel AM, Brown EM, et al:  Familial hypocalciuric hypercalcemia , in DeLuca HF, Anast CS (eds): Pediatric Disease Related to Calcium . New York, Elsevier North Holland Inc, 1980;, pp 413-431.
2 +
Spiegel AM, Harison HE, Stephen JM, et al:  Neonatal primary hyperparathyroidism with autosomal dominant inheritance . J Pediatr 1977;;90:269-272.
3 +
Thompson NW, Carpenter LC, Kessler DL, et al:  Hereditary neonatal hyperparathyroidism . Arch Surg 1978;;113:100-103.
4 +
Hillman DA, Scriver CR, Pedis S, et al:  Neonatal familial primary hyperparathyroidism . N Engl J Med 1964;;270:483-490.
5 +
Goldbloom RB, Gillis DA, Prasad M:  Hereditary parathyroid hyperplasia: A surgical emergency of early infancy . Pediatrics 1972;;49:514-523.
6 +
Bradford WD, Wilson JW, Gaede JT:  Primary neonatal hyperparathyroidism: An unusual cause of failure to thrive . Am J Clin Pathol 1973;;56:267-275.
7 +
Tsang CT, Chen IW, McEmery P, et al:  Parathyroid function tests with EDTA infusion in infancy and childhood . J Pediatr 1976;;88:250-256.
8 +
Morikawa T, Munekata E, Sakakibara S, et al:  Synthesis of eel-calcitonin and [Asu1,7]-eel-calcitonin: Contribution of the disulfied bond to the hormonal activity . Experientia 1976;;32:1104-1106.
9 +
Tomita A, Nakagawa H, Takita S, et al:  Therapeutic effect of synthetic eel calcitonin on patients with hypercalcemia (Japanese) . Horumon To Rinsho 1979;;27:897-902.
10 +
Wells SA Jr, Ellis GJ, Gunnels JC, et al:  Parathyroid autoplantation in primary parathyroid hyperplasia . N Engl J Med 1976;;295:57-62.
11 +
Harrison HE, Harrison HL: Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence . Philadelphia, WB Saunders Co, 1979;, pp 23-25.
12 +
Rhone DP:  Primary neonatal hyperparathyroidism: Report of a case and review of the literature . Am J Clin Pathol 1975;;64:488-499.

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References

1 +
Marx SJ, Spiegel AM, Brown EM, et al:  Familial hypocalciuric hypercalcemia , in DeLuca HF, Anast CS (eds): Pediatric Disease Related to Calcium . New York, Elsevier North Holland Inc, 1980;, pp 413-431.
2 +
Spiegel AM, Harison HE, Stephen JM, et al:  Neonatal primary hyperparathyroidism with autosomal dominant inheritance . J Pediatr 1977;;90:269-272.
3 +
Thompson NW, Carpenter LC, Kessler DL, et al:  Hereditary neonatal hyperparathyroidism . Arch Surg 1978;;113:100-103.
4 +
Hillman DA, Scriver CR, Pedis S, et al:  Neonatal familial primary hyperparathyroidism . N Engl J Med 1964;;270:483-490.
5 +
Goldbloom RB, Gillis DA, Prasad M:  Hereditary parathyroid hyperplasia: A surgical emergency of early infancy . Pediatrics 1972;;49:514-523.
6 +
Bradford WD, Wilson JW, Gaede JT:  Primary neonatal hyperparathyroidism: An unusual cause of failure to thrive . Am J Clin Pathol 1973;;56:267-275.
7 +
Tsang CT, Chen IW, McEmery P, et al:  Parathyroid function tests with EDTA infusion in infancy and childhood . J Pediatr 1976;;88:250-256.
8 +
Morikawa T, Munekata E, Sakakibara S, et al:  Synthesis of eel-calcitonin and [Asu1,7]-eel-calcitonin: Contribution of the disulfied bond to the hormonal activity . Experientia 1976;;32:1104-1106.
9 +
Tomita A, Nakagawa H, Takita S, et al:  Therapeutic effect of synthetic eel calcitonin on patients with hypercalcemia (Japanese) . Horumon To Rinsho 1979;;27:897-902.
10 +
Wells SA Jr, Ellis GJ, Gunnels JC, et al:  Parathyroid autoplantation in primary parathyroid hyperplasia . N Engl J Med 1976;;295:57-62.
11 +
Harrison HE, Harrison HL: Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence . Philadelphia, WB Saunders Co, 1979;, pp 23-25.
12 +
Rhone DP:  Primary neonatal hyperparathyroidism: Report of a case and review of the literature . Am J Clin Pathol 1975;;64:488-499.

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