Heritable syndrome of pseudoxanthoma elasticum with abnormal phosphorus and vitamin D metabolism.
A patient with pseudoxanthoma elasticum was documented to be hyperphosphatemic and mildly hypercalcemic for six years. Complications included metastatic calcification, absorptive hypercalciuria, and renal insufficiency. The 1,25-dihydroxyvitamin D value was elevated, despite normal serum parathyroid hormone values, high serum phosphate levels, and renal insufficiency. Either increased dietary calcium or prednisone seemed to suppress the 1,25-dihydroxyvitamin D value. Nephrolithiasis or abnormalities suggestive of pseudoxanthoma elasticum occurred in the patient's father, daughter, and several siblings, suggesting a distinct familial syndrome in which connective tissue changes are accompanied by abnormalities of phosphorus and vitamin D metabolism that may resemble those in the syndrome of familial tumoral calcinosis. Nine similar cases were described before 1970.
Mallette
L E
LE
Division of Endocrinology and Metabolism, Baylor College of Medicine, Houston, Texas.
Mechanick
J I
JI
D002117:Calcitriol / Q000378:metabolism; D002118:Calcium / Q000378:metabolism; D006801:Humans; D006934:Hypercalcemia / Q000378:metabolism*; D007669:Kidney Calculi / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010281:Parathyroid Hormone / Q000378:metabolism; D010758:Phosphorus / Q000378:metabolism*; D011241:Prednisone / Q000627:therapeutic use; D011561:Pseudoxanthoma Elasticum / Q000235:genetics / Q000378:metabolism*; D013960:Thyroid Function Tests; D014807:Vitamin D / Q000378:metabolism*
D010281:Parathyroid Hormone; D014807:Vitamin D; D010758:Phosphorus; D002117:Calcitriol; D002118:Calcium; D011241:Prednisone