Unusual cardiac, renal and pulmonary involvement in Gaucher's disease

作者: Rober R.L. Smith , Grover M. Hutchins , George H. Sack , Ren L. Ridolfi

DOI: 10.1016/0002-9343(78)90832-X

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摘要: A 25 year old black woman who had manifestations of Gaucher's disease since one age is described. This patient clinically significant cardiac, renal and pulmonary involvement with disease. Interstitial infiltration the myocardium by Gaucher cells caused decreased left ventricular compliance cardiac output. In kidney, were present in mesangium glomeruli interstitium cortex. Also, electron dense, intramembranous granular deposits seen on microscopy. The findings included arterial hypertension, accentuated basilar deposition glucocerebroside alveolar septums fatal bone marrow embolization.

参考文章(34)
L. Aschoff, Bemerkungen zur Physiologie des Lungengewebes Research in Experimental Medicine. ,vol. 50, pp. 52- 63 ,(1926) , 10.1007/BF02627760
E Beutler, H Nadler, W Kuhl, R Teplitz, F Trinidad, Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. American Journal of Human Genetics. ,vol. 23, pp. 62- 66 ,(1971)
Muriel Raum, Jonathan B. Horrell, Henry Rappaport, Bone Marrow Embolism. American Journal of Pathology. ,vol. 27, pp. 407- 433 ,(1951)
Bender, Herndon Cn, Gaucher's disease: cases in 5 related Negro sibships. American Journal of Human Genetics. ,vol. 2, pp. 49- 60 ,(1950)
JOHN S. HORSLEY, JAMES P. BAKER, FRANK L. APPERLY, GAUCHER??S DISEASE OF LATE ONSET WITH KIDNEY INVOLVEMENT AND HUGE SPLEEN.* The American Journal of the Medical Sciences. ,vol. 190, pp. 511- 518 ,(1935) , 10.1097/00000441-193510000-00010
P K Harvey, M C Jones, E G Anderson, Pericardial abnormalities in Gaucher's disease. Heart. ,vol. 31, pp. 603- 606 ,(1969) , 10.1136/HRT.31.5.603
J. J. GROEN, Gaucher's Disease Archives of Internal Medicine. ,vol. 113, pp. 543- 549 ,(1964) , 10.1001/ARCHINTE.1964.00280100051009
Ren L. Ridolfi, Bernadine H. Bulkley, Grover M. Hutchins, The conduction system in cardiac amyloidosis The American Journal of Medicine. ,vol. 62, pp. 677- 686 ,(1977) , 10.1016/0002-9343(77)90870-1
B. Myers, Gaucher's Disease of the Lungs BMJ. ,vol. 2, pp. 8- 26 ,(1937) , 10.1136/BMJ.2.3991.8