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10.1136/bcr-2014-203741

http://scihub22266oqcxt.onion/10.1136/bcr-2014-203741
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C3962973!3962973!24654255
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suck abstract from ncbi


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pmid24654255      BMJ+Case+Rep 2014 ; 2014 (ä): ä
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  • Ocular and skin manifestations in systemic pseudohypoaldosteronism #MMPMID24654255
  • Eliwa MS; El-Emmawie AH; Saeed MA
  • BMJ Case Rep 2014[]; 2014 (ä): ä PMID24654255show ga
  • Pseudohypoaldosteronism type-1 is a rare disorder characterised by end-organ resistance to aldosterone resulting in salt-losing crisis with hyponatraemic dehydration, hyperkalaemia and metabolic acidosis. We report two siblings with pseudohypoaldosteronism type-1 who presented early in neonatal period with hyponatraemia, severe hyperkalaemia and metabolic acidosis. Both babies had miliaria like skin rash which flared up during episodes of hyperkalaemia and hyponatraemia. They had visible dilated meibomian glands from which a white material was protruding. The clinical presentation of pseudohypoaldosteronism type-1 mimics congenital adrenal hyperplasia. As there is often a delay in obtaining hormonal assay results, the eye and skin manifestations may give an important diagnostic clue which in turn will influence management.
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