LCAT deficiency

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.

Proteinuria

Increased levels of protein in the urine.


Total: 12

                       


(per page)
PMID (PMCID)
30201532
 OTHER
Paradoxical fall in proteinuria during pregnancy in an LCAT-deficient patient-A case report.
Hanna EV, Simonelli S, Chamney S, Ossoli A, Mullan RN.
J Clin Lipidol. 2018;12(5):1151-1156.
A 29-year-old lady was diagnosed with lecithin:cholesterol acyltransferase (LCAT) deficiency having presented with bilateral corneal clouding, severely reduced high density lipoproteins cholesterol, and proteinuria.
28508023
(5419245)
 OTHER
An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level.
Balwani MR, Ghodela VA, Kute VB, Shah PR, Patel HV, Gera DN, Vanikar A, Trivedi HL.
J Nephropharmacol. 2017;6(1):23-26.
Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function).
25657982
(4316582)
 OTHER
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria.
Althaf MM, Almana H, Abdelfadiel A, Amer SM, Al-Hussain TO.
J Nephropathol. 2015;4(1):25-8.
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria.
21327698
 MIXED_SAMPLE Adult
Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency.
Miarka P, Idzior-Walus B, Kuzniewski M, Walus-Miarka M, Klupa T, Sulowicz W.
Clin Exp Nephrol. 2011;15(3):424-429.
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disorder of lipid metabolism, characterised by low plasma HDL cholesterol, proteinuria, haemolytic anaemia and corneal opacities.
21955868
 FEMALE Adult
Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review.
Shoji K, Morita H, Ishigaki Y, Rivard CJ, Takayasu M, Nakayama K, Nakayama T, Inoue Y, Ayaki M, Yoshimura A.
Clin Nephrol. 2011;76(4):323-8.
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disease characterized by corneal opacities, normocytic anemia, dyslipidemia, and proteinuria progressing to chronic renal failure.
25984174
(4421733)
 OTHER
Two novel mutations of lecithin:cholesterol acyltransferase (LCAT) gene and the influence of APOE genotypes on clinical manifestations.
Katayama A, Wada J, Kataoka HU, Yamasaki H, Teshigawara S, Terami T, Inoue K, Kanzaki M, Murakami K, Nakatsuka A, Sugiyama H, Koide N, Bujo H, Makino H.
NDT Plus. 2011;4(5):299-302.
Familial lecithin:cholesterol acyltransferase deficiency (FLD) is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, low high-density lipoprotein cholesterol (HDL-C) and proteinuria.
20938102
 MALE Middle Aged
Point mutation (C to T) of the LCAT gene resulting in A140C substitution.
Hirashio S, Izumi K, Ueno T, Arakawa T, Naito T, Taguchi T, Yorioka N.
J Atheroscler Thromb. 2010;17(12):1297-301.
Familial lecithin: cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, proteinuria, and a low serum level of high-density lipoprotein cholesterol (HDL-C).
18397721
 MALE Adult
Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs).
Aranda P, Valdivielso P, Pisciotta L, Garcia I, Garca A-Arias C, Bertolini S, Marta N-Reyes G, Gonza Lez-Santos , Calandra S.
Clin Nephrol. 2008;69(3):213-8.
Familial lecithin cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by the appearance of corneal opacity, anemia, proteinuria progressing to chronic renal failure and abnormalities in the composition of plasma lipoproteins.
12886512
 MALE Middle Aged
[Ocular manifestation in LCAT deficiency--a clinicopathological correlation].
Viestenz A, Seitz B.
Klin Monbl Augenheilkd. 2003;220(7):499-502.
Additionally, LCAT deficiency is associated with anaemia and proteinuria.
8445342
 MALE Middle Aged
Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).
Klein HG, Lohse P, Duverger N, Albers JJ, Rader DJ, Zech LA, Santamarina-Fojo S, Brewer HB Jr.
J Lipid Res. 1993;34(1):49-58.
The molecular defects in the lecithin:cholesterol acyltransferase (LCAT) gene have been identified in a 52-year-old patient with classic LCAT deficiency, presenting with corneal clouding and proteinuria.
2634146
 MIXED_SAMPLE Adult
A new case of familial lecithin: cholesterol acyltransferase (LCAT) deficiency--paradoxical findings regarding LCAT mass and activity in 23 members of a family.
Takata K, Kajiyama G, Horiuchi I, Watanabe T, Tokumo H, Hirata Y.
Jpn J Med. 1989;28(6):765-71.
One subject showed the clinical characteristics of classic LCAT deficiency; however, the other, who was a vegetarian, showed corneal opacities and red cell deformity, but not proteinuria.
3586537
 FEMALE Adult
[Corneal opacity as the leading symptom of hereditary lecithin-cholesterol acyltransferase (LCAT) deficiency. Case report and a review of the literature].
Weidle EG, Lisch W.
Klin Monbl Augenheilkd. 1987;190(3):182-7.
Familial lecithin: cholesterol acyltransferase (LCAT) deficiency is an inborn error of lipid metabolism clinically characterized by anemia, proteinuria, and corneal opacification.