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Correspondence
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Volume 347:1892-1893 December 5, 2002 Number 23
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Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations

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by Groman, J. D.
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To the Editor: The best interpretation of the data presented by Groman et al. (Aug. 8 issue)1 is not that their patients had variant cystic fibrosis phenotypes in the absence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene but that these patients had similar but different diagnoses. In their accompanying editorial, Knowles and Durie2 allude to this when they comment on the lack of phenotypic information and make a number of suggestions that could unify a cystic fibrosis–like phenotype and laboratory abnormalities with other disorders, including malnutrition, adrenal disorders, and hypergammaglobulinemia with skin changes. Pseudohypoaldosteronism . . . [Full Text of this Article]



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