Literature DB >> 16435217

Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia.

T W L Mak1, L M Wong, S N Wong, K Tse, J P S Lai.   

Abstract

A Chinese boy with glycerol kinase deficiency is reported. His presentation with severe hypernatraemia secondary to hypodipsia and glycerol-induced osmotic diuresis is unusual and not previously described in the literature.

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Year:  2005        PMID： 16435217     DOI： 10.1007/s10545-005-0101-2

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  5 in total

Review 1.  Severe hypernatremia with impaired thirst.

Authors:  G O Perez; J R Oster; G L Robertson
Journal:  Am J Nephrol       Date:  1989       Impact factor: 3.754

Review 2.  Osmotic diuresis.

Authors:  F J Gennari; J P Kassirer
Journal:  N Engl J Med       Date:  1974-10-03       Impact factor: 91.245

3.  Exaggerated vasopressin secretion and attenuated osmoregulated thirst in human survivors of hyperosmolar coma.

Authors:  K McKenna; A D Morris; H Azam; R W Newton; P H Baylis; C J Thompson
Journal:  Diabetologia       Date:  1999-05       Impact factor: 10.122

Review 4.  Hyponatremia and hypernatremia. A systematic approach to causes and their correction.

Authors:  P J Fall
Journal:  Postgrad Med       Date:  2000-05-01       Impact factor: 3.840

Review 5.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982
  5 in total

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