Nephrocalcinosis in homozygous familial hypercholesterolemia: ultrasound and CT findings.
An association between homozygous familial hypercholesterolemia (FH) and nephrocalcinosis has not, to our knowledge, been previously reported. Evaluation in 10 cases of homozygous FH revealed evidence of nephrocalcinosis in 7 cases. Fine, uniform calcifications in the renal papillae were demonstrated by renal ultrasound or CT. Renal papillary necrosis was demonstrated by intravenous pyelogram in one case. No renal function impairment was noted in these seven patients. There was no evidence of hypercalcemia. These findings may have implications for the use of a potentially nephrotoxic drug for the treatment of this disease--in particular, when an immunosuppressive agent is required following liver transplantation.
Hill
S C
SC
Diagnostic Radiology Department, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892.
Hoeg
J M
JM
Avila
N A
NA
D000293:Adolescent; D000328:Adult; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D007674:Kidney Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D008297:Male; D011446:Prospective Studies; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography