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Coexistence of hypocalciuric hypercalcaemia and interstitial lung disease in a family: a cross‐sectional study
Author(s) -
AUWERX JOHAN,
DEMEDTS MAURITS,
BOUILLON ROGER,
DESMET JOHAN
Publication year - 1985
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.1985.tb00136.x
Subject(s) - dlco , diffusing capacity , medicine , hypercalcaemia , interstitial lung disease , gastroenterology , lung , lung volumes , parathyroid hormone , vital capacity , pathology , cardiology , endocrinology , calcium , lung function
. In a prospective investigation, a large kindred (twenty‐one subjects) with unexplained association of familial hypocalciuric hypercalcaemia and idiopathic interstitial lung disease was studied. Serum calcium was increased in fifteen patients (the youngest being 7 years old) and was associated with hypo‐ or normocalciuria. The abnormalities were not age‐dependent. The serum concentrations of parathyroid hormone, 25–hydroxyvitamin D 3 , 1,25‐dihydroxyvitamin D 3 and calcitonin were normal. In twelve patients the diffusing capacity (DL co ) and/or DLco per unit lung volume was less than 75% predicted. This was often accompanied by a vital capacity of less than 80% predicted, an increased Tiffeneau index, and a reticulo‐micronodular pattern with high diaphragm on chest X‐ray. The decrease in DLco was more pronounced in older non‐smoking as well as smoking subjects ( P < 0·02) suggesting a progressing interstitial disease with age. The fibrosing alveolitis, which had been confirmed by open lung biopsy in three subjects, could not be attributed to sarcoïdosis, collagen‐vascular disease, or exogenous causes. The disturbances in the calcium homeostasis and in the diffusing capacity of the lung coexisted in seven of the twenty‐one patients. Apparently, both abnormalities were inherited following an autosomal‐dominant pattern but with a different penetration in each person, and seemed not be causally related to each other.