Literature DB >> 6468429

Neonatal hyperparathyroidism.

C A Dezateux, J C Hyde, H M Hoey, J L O'Riordan, L Spitz, G W Taylor, D B Grant.   

Abstract

We describe a girl with congenital hyperparathyroidism who presented soon after birth with respiratory distress, hypotonia, feeding difficulties, and bone deformities. Hypercalcaemia, hypophosphataemia, and raised alkaline phosphatase were present and plasma parathyroid hormone levels measured by radioassay and bioassay were raised. X-rays showed gross demineralisation with metaphyseal fractures, erosions, and sub-periostal reaction along the bones. Following surgical removal of four hyperplastic parathyroid glands and subsequent maintainance therapy with 1-alpha-hydroxycholecalciferol there has been virtually complete reversal of her bone abnormalities.

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Mesh：

Year:  1984        PMID： 6468429     DOI： 10.1007/bf00445595

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  9 in total

1.  Hypercalcemia and idiopathic hyperplasia of the parathyroid glands in an infant.

Authors:  E L PRATT; B B GEREN; E B D NEUHAUSER
Journal:  J Pediatr       Date:  1947-04       Impact factor: 4.406

2.  Congenital hyperparathyroidism. Case report and review of the literature.

Authors:  W Proesmans; F Dhondt; N Logghe
Journal:  Acta Paediatr Belg       Date:  1977 Jan-Mar

3.  Urinary excretion of calcium and magnesium in children.

Authors:  S Ghazali; T M Barratt
Journal:  Arch Dis Child       Date:  1974-02       Impact factor: 3.791

Review 4.  Primary neonatal hyperparathyroidism. Report of a case and review of the literature.

Authors:  D P Rhone
Journal:  Am J Clin Pathol       Date:  1975-10       Impact factor: 2.493

5.  Neonatal primary hyperparathyroidism with autosomal dominant inheritance.

Authors:  A M Spiegel; H E Harrison; S J Marx; E M Brown; G D Aurbach
Journal:  J Pediatr       Date:  1977-02       Impact factor: 4.406

Review 6.  Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia.

Authors:  S J Marx; A M Spiegel; M A Levine; R E Rizzoli; R D Lasker; A C Santora; R W Downs; G D Aurbach
Journal:  N Engl J Med       Date:  1982-08-12       Impact factor: 91.245

7.  Primary hyperparathyroidism in children.

Authors:  R M Girard; A Belanger; B Hazel
Journal:  Can J Surg       Date:  1982-01       Impact factor: 2.089

8.  Studies of circulating parathyroid hormone in man using a homologous amino-terminal specific immunoradiometric assay.

Authors:  S E Papapoulos; R M Manning; G N Hendy; I G Lewin; J L O'Riordan
Journal:  Clin Endocrinol (Oxf)       Date:  1980-07       Impact factor: 3.478

9.  Cytochemical bioassay of parathyroid hormone: characteristics of the assay and analysis of circulating hormonal forms.

Authors:  D Goltzman; B Henderson; N Loveridge
Journal:  J Clin Invest       Date:  1980-06       Impact factor: 14.808
  9 in total
  4 in total

1.  In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.

Authors:  M Bai; S H Pearce; O Kifor; S Trivedi; U G Stauffer; R V Thakker; E M Brown; B Steinmann
Journal:  J Clin Invest       Date:  1997-01-01       Impact factor: 14.808

2.  Neonatal hyperparathyroidism.

Authors:  B Steinmann; H E Gnehm; A Prader
Journal:  Eur J Pediatr       Date:  1985-01       Impact factor: 3.183

3.  Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Authors:  S H Pearce; D Trump; C Wooding; G M Besser; S L Chew; D B Grant; D A Heath; I A Hughes; C R Paterson; M P Whyte
Journal:  J Clin Invest       Date:  1995-12       Impact factor: 14.808

4.  Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.

Authors:  Barbora Obermannova; Karolina Banghova; Zdenek Sumník; Hana M Dvorakova; Jan Betka; Filip Fencl; Stanislava Kolouskova; Ondrej Cinek; Jan Lebl
Journal:  Eur J Pediatr       Date:  2008-08-27       Impact factor: 3.183
  4 in total

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