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Endocrine Abstracts

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ea0017p28 | (1) | BSPED2008

A diagnosis of pseudohypoaldosteronism wrongly given to cousins who were later diagnosed as having Bartters Syndrome and found to have a de novo mutation for the ROMK gene

Mukherjee A L , Greening J , Carrihill M , Dublon V

We present 2 cousin brother and sister, MK and AK (family tree attached in Fig) who presented with a common pattern of hyponatremia with hyperkalemia, hypomagnesaemia, salt wasting, hyperaldosterinism and hyper-reninaemia in their neonatal life with polyuria. A diagnosis of pseudohypoaldosteronism was made and they were commenced on sodium supplements and indomethacin.The shaded boxes are in utero deat...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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