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At rounds, a number of diagnoses were considered, including Cystic fibrosis, immune deficiency, and, given his electrolyte disturbances, a congenital form of adrenal insufficiency.


The patient was diagnosed with Pseudohypoaldosteronism Type 1.


Treatment was initiated with regular chest physiotherapy and inhaled tobramcin, and it was recommended that he receive anti-pseudomonal antibioitics if he were to be re-admitted.


Most of the case discussion centered around the possibility that this patient could have pseudohypoaldosteronism and cystic fibrosis, given his clinical picture and elevated sweat chlorides. While it seemed unlikely that he would have an extremely rare disease and a rare disease, it was apparent that this could not be completely excluded at present. Serum trypsinogen levels were suggested, although, given his good growth, if the patient had cystic fibrosis, he was likely to be pancreatic sufficient. CFTR sequencing was recommended, particularly since, given his ethnic origin, it would be likely that if he had cystic fibrosis, he would have one or more rare CFTR mutations. CFTR analysis, looking in particular for N1303K and 2789+5G>A, given his ethnic origin, or P574H, given his initial presentation with dehydration, was suggested, as these mutations have been observed by the Halifax clinic in these contexts.

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