A novel homozygous mutation causing lecithin–cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia

Rial-Crestelo, David; Santos-Recuero, Ildefonso; Julve, Josep; Blanco‐Vaca, Francisco; Torralba, Miguel

doi:10.1016/j.jacl.2017.08.008

Cited by 6 publications

(4 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Hence, the presence of renal disease could be explained by gene–gene or environment–gene interactions, that would favor the presence and amount of LpX. According with this, Rial-Crestelo D et al [30] reported the case of one family, in which one member was diagnosed as FLD, while their sister was found to have FED, carrying the same LCAT mutation. However, the FED subject was too young to discard the possibility of future renal disease.…”

Section: Discussionmentioning

confidence: 99%

Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

Lamíquiz-Moneo

Civeira

Gómez-Coronado

et al. 2019

JCM

View full text Add to dashboard Cite

Renal complications are the major cause of morbidity and mortality in patients with familial lecithin–cholesterol acyltransferase (LCAT) deficiency (FLD). We report three FLD patients, two of them siblings—only one of whom developed renal disease—and the third case being a young man with early renal disease. The aim of this study was to analyze the clinical characteristics and possible mechanisms associated with renal disease in these patients. Plasma lipid levels, LCAT activity, lipoprotein particle profile by NMR and FPLC, free and esterified cholesterol, presence of lipoprotein X (LpX) and DNA sequencing in the three FLD patients have been determined. The three cases presented clinical characteristics of FLD, although only one of the siblings developed renal disease, at 45 years of age, while the other patient developed the disease in his youth. Genetic analysis revealed new missense homozygous mutations, p.(Ile202Thr) in both siblings and p.(Arg171Glu) in the other patient. Lipoprotein particle analysis showed that the two patients with renal disease presented higher numbers of small very low-density lipoprotein (VLDL) and a higher concentration of triglycerides in VLDL. This study reports three new cases of LCAT deficiency, not previously described. Renal disease is not only dependent on LCAT deficiency, and could be due to the presence of VLDL particles, which are rich in triglycerides, free cholesterol and LpX.

show abstract

Section: Discussionmentioning

confidence: 99%

Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

Lamíquiz-Moneo

Civeira

Gómez-Coronado

et al. 2019

JCM

View full text Add to dashboard Cite

show abstract

“…10 In the case described here, the triglyceride levels were higher than would be expected in pregnancy, which is consistent with other LCAT-deficient patients reported. 7,8 The presence of nephrotic syndrome in this pregnancy may well have also contributed to her elevated serum triglycerides. 11 Fetal growth slowed down during pregnancy, to which 12 both underlying renal disease and episodes of pancreatitis may have contributed.…”

Section: Lipid-lowering Treatmentsmentioning

confidence: 98%

“…5,6 Information regarding LCAT deficiency and pregnancy is limited. 7,8 Case A 29-year-old pregnant woman was referred for multidisciplinary care because of her history of FLD (secondary to a G to A nucleotide transition in exon IV of the LCAT gene which resulted in an Arg140 to His substitution). She was known to have anaemia, low HDL, corneal lipid deposition, and nephrotic syndrome secondary to membranous glomerulopathy diagnosed at the age of 21.…”

Section: Introductionmentioning

confidence: 99%

LCAT deficiency and pregnancy: Case report

et al. 2020

View full text Add to dashboard Cite

Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive condition affecting lipid metabolism with a prevalence of less than 1:1,000,000. Described here is the case of a 29-year-old pregnant woman with a diagnosis of LCAT deficiency (c.140G>A in exon 4), who had three episodes of hypertriglyceridemia-induced pancreatitis and nephrotic-range proteinuria throughout the pregnancy. Furthermore, fetal ultrasounds carried out during the second and third trimester revealed a steady reduction in fetal growth rate, and fetal growth restriction (FGR) was diagnosed. The woman underwent an elective caesarean section at 33 weeks of gestation and delivered a healthy neonate. This case report adds knowledge of the natural history of LCAT deficiency during pregnancy and will be useful in future patient management.

show abstract

“…This article contains supplemental data ( 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 , 94 , 95 , 96 , 97 , 98 , 99 , 100 , 101 , 102 , 103 , 104 , 105 , 106 , 107 , 108 , 109 , 110 , 111 , 112 , 113 , 114 , 115 , 116 , 117 , 118 , 119 , 120 , 121 , 122 , 123 , 124 , 125 , 126 , 127 , 128 , 129 , 130 , 131 , 132 , 133 , …”

Section: Supplemental Dataunclassified

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency

Vitali

Bajaj

Nguyen

et al. 2022

Journal of Lipid Research

View full text Add to dashboard Cite

This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

show abstract

A novel homozygous mutation causing lecithin–cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia

Cited by 6 publications

References 14 publications

Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency

LCAT deficiency and pregnancy: Case report

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency

Contact Info

Product

Resources

About