Literature DB >> 8215575

Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia.

H Wilkinson1, J James.   

Abstract

A boy is described who presented aged 7 weeks with severe biochemical and radiological neonatal hyperparathyroidism that had completely resolved by the age of 6 months. His mother had a normal serum calcium concentration but his father, paternal aunt, and paternal cousin all had a raised serum calcium due to familial hypocalciuric hypercalcaemia.

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Year:  1993        PMID： 8215575      PMCID： PMC1029502          DOI： 10.1136/adc.69.3_spec_no.319

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  4 in total

1.  Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia.

Authors:  L A Page; J E Haddow
Journal:  J Pediatr       Date:  1987-08       Impact factor: 4.406

2.  Familial benign hypercalcemia.

Authors:  T P Foley; H C Harrison; C D Arnaud; H E Harrison
Journal:  J Pediatr       Date:  1972-12       Impact factor: 4.406

3.  An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.

Authors:  S J Marx; M F Attie; A M Spiegel; M A Levine; R D Lasker; M Fox
Journal:  N Engl J Med       Date:  1982-02-04       Impact factor: 91.245

4.  Urine calcium and serum ionized calcium, total calcium and parathyroid hormone concentrations in the diagnosis of primary hyperparathyroidism and familial benign hypercalcaemia.

Authors:  I R Gunn; J R Wallace
Journal:  Ann Clin Biochem       Date:  1992-01       Impact factor: 2.057
  4 in total
  6 in total

1.  Neonatal severe hyperparathyroidism: further clinical and molecular delineation.

Authors:  Fawziya A Al-Khalaf; Adel Ismail; Ashraf T Soliman; David E C Cole; Tawfeg Ben-Omran
Journal:  Eur J Pediatr       Date:  2010-10-23       Impact factor: 3.183

2.  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

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

Review 4.  Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy.

Authors:  Jakob Höppner; Kathrin Sinningen; Adalbert Raimann; Barbara Obermayer-Pietsch; Corinna Grasemann
Journal:  J Clin Med       Date:  2022-05-05       Impact factor: 4.964

5.  A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia.

Authors:  Ksenia N Tonyushkina; Stephen O'Connor; Nancy S Dunbar
Journal:  Int J Pediatr Endocrinol       Date:  2012-05-23

6.  Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.

Authors:  Jakob Höppner; Sabrina Lais; Claudia Roll; Andreas Wegener-Panzer; Dagmar Wieczorek; Wolfgang Högler; Corinna Grasemann
Journal:  Front Endocrinol (Lausanne)       Date:  2021-10-01       Impact factor: 5.555
  6 in total

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