Abstract
Abnormalities in mineral and bone metabolism have been reported in Cystic Fibrosis (CF), but overt rickets as a presentation of CF is extremely rare. The role of vitamin D in CF has recently received attention. The deficiencies of fat soluble vitamins associated with CF may be accounted for by impairment of both intestinal absorption and liver function. Rickets is herein reported in a poorly developed 9-month old girl less than the 3rd %ile for weight with a history of large frequent foul stools receiving 400 IU of vitamin D daily. She presented with hypocalcemia(Ca4.7mg%), hypophosphatemia (PO4 2.8), elevated alkaline phosphatase (657 mU/ml), depressed serum 25(OH)vitamin D (6.6ng/ml) elevated serum PTH, and clinical and radiological evidence of rickets. Although there was no family history of CF, studies revealed an elevated sweat chloride and pancreatic exocrine insufficiency consistent with CF. The patient also had abnormal liver function tests and a distal myopathy. Treatment was initiated with 1,25(OH)2 vitamin D and came to include a standard vitamin D preparation and pancreatic enzymes. This led to full recovery of the rachitic process with normalization of circulating 25(OH) vitamin D (35.1 ng/ml) and PTH with concurrent resolution of the liver function abnormalities and the myopathy. The resolution of the myopathy with vitamin D therapy strongly suggests that it was a reflection of the vitamin D deficiency state.
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Abraham, E., Gerdes, J., Castille, R. et al. 1095 VITAMIN D DEFICIENCY RICKETS WITH ABNORMAL LIVER FUNCTION TESTS AND MYOPATHY AS THE PRESENTING MANIFESTATIONS OF CYSTIC FIBROSIS. Pediatr Res 15 (Suppl 4), 625 (1981). https://doi.org/10.1203/00006450-198104001-01121
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DOI: https://doi.org/10.1203/00006450-198104001-01121
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