ReviewClinical and experimental nephrology2014
Characteristic kidney pathology, gene abnormality and treatments in LCAT deficiency.
Review in Clinical and experimental nephrology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 40 citations in OpenAlex.
- Genetic kidney disease in adults-the pathologists' perspective.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Review
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Preliminary screening of urinary host protein biomarkers for Schistosomiasis haematobium: A proteome profiling study identifying candidate diagnostic targets in school-aged children.PLoS neglected tropical diseases · 2025Article
- A rare case of nephrotic syndrome and Tangier disease.CEN case reports · 2023Article
- A rare case of renal involvement in Lecithin-Cholesterol Acyltransferase (LCAT) deficiency: lessons for the clinical nephrologist.Journal of nephrology · 2023Article
- Influence of lecithin cholesterol acyltransferase alteration during different pathophysiologic conditions: A 45 years bibliometrics analysis.Frontiers in pharmacology · 2022Article
- High-Density Lipoproteins in Kidney Disease.International journal of molecular sciences · 2021Review
- Lipid Profile Rather Than theJournal of clinical medicine · 2019Article
- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.JIMD reports · 2018Article
- Extreme Renal Pathology in Alagille Syndrome.Kidney international reports · 2017Article
- A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously.CEN case reports · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lecithin:cholesterol acyltransferase (LCAT) is a key enzyme involved in reverse cholesterol transport from the peripheral tissues to the liver. LCAT deficiency, in which this enzyme is congenitally absent, is a genetic disease that impairs the esterification of free cholesterol in the plasma, leading to accumulation of phospholipids, including lecithin, in the organs of the body; the clinical manifestations include corneal opacities, normochromic anemia, renal disorder, etc. The prognosis is determined by the degree of renal dysfunction, and renal biopsy specimens reveal characteristic light- and electron-microscopic findings. The disease, transmitted by autosomal recessive inheritance, is extremely rare. There have only been 88 gene mutations of the LCAT gene reported around the world, and 13 of them are from Japan. One of the characteristics of LCAT deficiency is the strong correlations among the patterns, extent and phenotypes of these gene mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.