Lecithin:cholesterol acyltransferase (LCAT) deficiency: Renal lesions with early graft recurrence

Ultrastructural Pathology

Volumn 35, Issue 3, 2011, Pages 139-145

  Strøm, Erik H ^a   Sund, Ståle ^b   Reier Nilsen, Morten ^c   Dørje, Christina ^a   Leren, Trond P ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b Section for Rheumatology   (Norway)

^c Sykehuset Buskerud HF   (Norway)

Author keywords

Kidney; LCAT disease; Lecithin:cholesterol acyltransferase deficiency; Nephrotic syndrome; Renal transplant; Ultrastructure

Indexed keywords

ADULT; ARTICLE; CASE REPORT; ENZYMOLOGY; FEMALE; GENETICS; GLOMERULUS; HETEROZYGOTE; HUMAN; KIDNEY; KIDNEY DISEASE; KIDNEY TRANSPLANTATION; LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; MALE; MUTATION; RECURRENT DISEASE; ULTRASTRUCTURE;

FEMALE; HETEROZYGOTE; HUMANS; KIDNEY; KIDNEY DISEASES; KIDNEY GLOMERULUS; KIDNEY TRANSPLANTATION; LECITHIN ACYLTRANSFERASE DEFICIENCY; MALE; MUTATION; RECURRENCE; YOUNG ADULT;

EID: 79952753802     PISSN: 01913123     EISSN: 15210758     Source Type: Journal    
DOI: 10.3109/01913123.2010.551578     Document Type: Article

References (28)

1. Norum KR, Gjone E. Familial plasma lecithin:cholesterol acyltransferase deficiency: biochemical study of a new inborn error of metabolism. Scand J Clin Lab Invest. 1967;20:231-243.
2. OhtaY, Yamamoto S, Tsuchida H, et al. Nephropathy of familial lecithin-cholesterol acyltransferase deficiency: report of a case. Am J Kidney Dis. 1986; 7: 41-46. (Pubitemid 16157418)
3. Jonas A. Lecithin cholesterol transferase. Biochim Biophys Acta. 2000;1529:245-256.
4. Kuivenhoven JA, Pritchard H, Hill J, et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res. 1997;38:191-205. (Pubitemid 27118033)
5. Viestenz A, Schlötzer-Schrehardt U, Hofmann-Rummelt C, et al. Histopathology of corneal changes in lecithin:cholesterol acyltransferase deficiency. Cornea. 2002:21:834-837. (Pubitemid 35239512)
6. Ayyobi AF, McGladdery SH, Chan S, et al. Lecithin:cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up. Atherosclerosis. 2004; 177: 361-366. (Pubitemid 39505269)
7. Suda T, Akamatsu A, Nakaya Y, et al. Alterations in erythrocyte membrane lipid and its fragility in a patient with familial lecithin: cholesterol acyltransferase (LCAT) deficiency. J Med Invest. 2002; 49: 147-155. (Pubitemid 35452971)
8. Brandtzaeg P, Baklien K. Immunhistochemical studies on the formation and epithelial transport of immunglobulins in normal and diseased human intestinal mucosa. Scand J Gastroenterol Suppl. 1976; 36: 1-45.
9. Calabresi L, Pisciotta L, Constantin A, et al. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc Biol. 2005; 25: 1972-1978. (Pubitemid 41243471)
10. Skretting G, Blomhoff JP, Solheim J, Prydz H. The genetic defect of the original Norwegian lecithin:cholestertol acyltransferase deficiency families. FEBS Lett. 1992; 309: 307-310.
11. Lager DJ, Rosenberg BF, Shapiro H, Bernstein J. Lecithin cholesterol acyltransferase deficiency: ultrastructural examination of sequential renal biopsies. Mod Pathol. 1991; 4: 331-335.
12. Imbasciati E, Paties C, Scarpioni L, Mihatsch MJ. Renal lesions in familial lecithin-cholesterol acyltransferase deficiency: ultrastructural heterogeneity of glomerular changes. Am J Nephrol. 1986;6:66-70. (Pubitemid 16190310)
13. Hovig T, Gjone E. Familial lecithin:cholesterol acyltransferase deficiency: ultrastructural studies on lipid deposition and tissue reactions. Scand J Clin Lab Invest Suppl. 1974;137:135-146.
14. Gjone E, Blomhoff JP, Skarbøvik AJ. Possible association between an abnormal low density lipoprotein and nephropathy in lecithin:cholesterol acyltransferase deficiency. Clin Chim Acta. 1974; 54:11-18.
15. Zhu X, Herzenberg AM, Eskandarian M, et al. A novel in vivo lecithin-cholesterol acyltransferase (LCAT)-deficient mouse expressing predominantly LpX is associated with spontaneous glomerulopathy. Am J Pathol. 2004;165:1269-1278. (Pubitemid 39297732)
16. Finn LJ, Bernstein J. Renal disease caused by familial metabolic and hematologic diseases. In: Jennette JC, Olson JL, Schwartz MM, Silva FG, eds. Heptinstall's Pathology of the Kidney. Philadelphia: Lippincott Williams & Wilkins; 2007: 1199-1256.
17. Flatmark AL, Hovig T, Myhre E, Gjone E. Renal transplantation in patients with familial lecithin:cholesterol-acyltransferase deficiency. Transplant Proc. 1977; 9: 1665-1671.
18. Horina JH, Wirnsberger G, Horn, S et al. Long-term follow -up of a patient with lecithin cholesterol acyltransferase deficiency syndrome after kidney transplantation. Transplantation. 1993; 56: 233-236. (Pubitemid 23220610)
19. Panescu V, Grignon Y, Hestin D, et al. Recurrence of lecithin cholesterol acyltransferase deficiency after kidney transplantation. Nephrol Dial Tranplant. 1997;12:2430-2432. (Pubitemid 27474636)
20. Bracamonte ER, Kowalewska J, Starr J, et al. Iatrogenic phospholipidosis mimicking Fabry disease. Am J Kidney Dis. 2006; 48: 844-850. (Pubitemid 44740050)
21. Faraggiana T, Churg J. Renal lipidoses: a review. Hum Pathol. 1987;18:661-679. (Pubitemid 17124614)
22. Papa V, Tarantino L, Preda P, et al. The role of ultrastructural examination in storage diseases. Ultrastruct Pathol. 2010;34:243-251.
23. Sakaguchi H, Dachs S, Grishman E, et al. Hepatic glomerulosclerosis: an electron microscopic study of renal biopsies in liver diseases. Lab Invest. 1965;14:533-545.
24. Chung-Park M, Petrelli M, Tavill AS, et al. Renal lipidosis associated with arteriohepatic dysplasia (Alagilles's syndrome). Clin Nephrol. 1982;18:314-320. (Pubitemid 13202010)
25. Gjone E, Blomhoff JP, Wiencke I. Plasma lecithin:cholesterol acyltransferase activity in acute hepatitis. Scand J Gastroenterol. 1971;6:161-168.
26. Saito T, Matsunaga A, Oikawa S. Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. Am J Kidney Dis. 2006;47:199-211. (Pubitemid 43121323)
27. Lynn KL, Pickering W, Gardner J, et al. Intravenous drug abuse and glomerular deposition of lipid-like material. Nephron. 1998; 80: 274-276. (Pubitemid 28502315)
28. Lim AKH, Dowling JP, Kanellis J. Glomerular lipid deposition: a clue to illicit intravenous drug use. Nephrology. 2009; 14: 358-359.