Review
Biochemistry & Molecular Biology
Cecilia Vitali, Archna Bajaj, Christina Nguyen, Jill Schnall, Jinbo Chen, Kostas Stylianou, Daniel J. Rader, Marina Cuchel
Summary: This article systematically reviews the natural history and biomarkers of LCAT deficiency in order to guide the development of novel therapeutics. The study found that fish-eye disease and familial LCAT deficiency are characterized by early corneal opacity and markedly reduced HDL-C levels. In familial LCAT deficiency, proteinuria/hematuria are the first signs of renal impairment, followed by rapid decline of renal function. LCAT activity and the percentage of circulating esterified cholesterol (EC%) are the best discriminators between these two syndromes.
JOURNAL OF LIPID RESEARCH
(2022)
Article
Medicine, General & Internal
Chiara Pavanello, Marta Turri, Arianna Strazzella, Patrizia Tulissi, Stefano Pizzolitto, Giovanna De Maglio, Riccardo Nappi, Laura Calabresi, Giuliano Boscutti
Summary: CER-001 treatment in FLD patients can normalize lipoprotein profile, reduce abnormal LpX, and slow down the progression of kidney dysfunction. Additionally, CER-001 is able to progressively remove lipid deposits in podocytes and stabilize the disease.
JOURNAL OF INTERNAL MEDICINE
(2022)
Article
Peripheral Vascular Disease
Margareta Fistrek Prlic, Marijana Coric, Laura Calabresi, Chiara Pavanello, Lorena Mosca, Ugo Cavallari, Ivana Vukovic Brinar, Sandra Karanovic, Mario Laganovic, Bojan Jelakovic
Summary: This is the first reported cases of familial LCAT deficiency in Croatia with classical clinical and biochemical features. The diagnosis of familial LCAT deficiency was confirmed through kidney biopsies, LCAT enzyme activity measurement, and genetic testing.
ATHEROSCLEROSIS PLUS
(2022)
Article
Endocrinology & Metabolism
Eli Muchtar, Matthew T. Drake, Nelson Leung, Angela Dispenzieri, Martha Q. Lacy, Francis K. Buadi, David Dingli, Suzanne R. Hayman, Prashant Kapoor, Yi Lisa Hwa, Amie Fonder, Miriam Hobbs, Wilson Gonsalves, Taxiarchis Kourelis, Rahma Warsame, Stephen Russell, Ronald S. Go, Moritz Binder, Robert A. Kyle, S. Vincent Rajkumar, Shaji K. Kumar, Morie A. Gertz
Summary: The study found that vitamin D deficiency is common in AL amyloidosis patients, particularly among those with heavy proteinuria. Severe 25(OH)D deficiency at diagnosis predicts progression to end-stage renal disease.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Urology & Nephrology
Ghalia Khellaf, Ali Benziane, Louiza Kaci, Soumia Missoum, Mourad Lahmar, Mohamed Benabadji
Summary: This article reports a case of a 35-year-old man who presented with hypertension, rapidly progressive glomerulonephritis, nephrotic proteinuria, severe renal failure, annular corneal opacities, anemia, and dyslipidemia. The diagnosis of familial LCAT deficiency was confirmed through clinical examination, characteristic dyslipidemia, undetectable LCAT levels in plasma, and positive family history.
CLINICAL NEPHROLOGY
(2023)
Article
Hematology
Diletta Domenica Torres, Giulia Fonto, Luca Guastamacchia, Luisa Santangelo, Vincenza Carbone, Giovanni Piscopo, Federica Spadaccino, Elena Ranieri, Giuseppe Stefano Netti, Mario Giordano
Summary: In pediatric patients, early and intensive immunoadsorption (IA) treatment has shown efficacy in treating recurrent FSGS, reducing nephrotic proteinuria and improving clinical symptoms, while maintaining stable renal function.
BLOOD PURIFICATION
(2022)
Review
Biochemistry & Molecular Biology
Cecilia Vitali, Daniel J. Rader, Marina Cuchel
Summary: The review summarizes the rare genetic lecithin:cholesterol acyltransferase (LCAT) deficiency, which presents as two different syndromes: Familial LCAT deficiency (FLD) and Fish-eye disease (FED). FLD is characterized by low HDL-C, corneal opacity, anaemia, and renal disease. The review discusses the recent advances in potential therapeutics for FLD, including LCAT activators and HDL mimetics, and emphasizes the need for identifying efficacy endpoints and personalized treatments based on the clinical characteristics of individual patients.
CURRENT OPINION IN LIPIDOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Stefano Turolo, Alberto Edefonti, Alessandra Mazzocchi, Marie Louise Syren, William Morello, Carlo Agostoni, Giovanni Montini
Summary: Research on the role of arachidonic acid and its metabolites in kidney disease, particularly idiopathic nephrotic syndrome, is limited. These substances play a significant role in various biological processes related to kidney function, inflammation, and fibrosis. Dietary interventions to maintain balance between arachidonic acid and linoleic acid could potentially help mitigate inflammatory states seen in kidney diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Monica Gomaraschi, Marta Turri, Arianna Strazzella, Marie Lhomme, Chiara Pavanello, Wilfried Le Goff, Anatol Kontush, Laura Calabresi, Alice Ossoli
Summary: Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare genetic disease that leads to abnormal lipoprotein profile, with severe reduction in plasma levels of high-density lipoprotein (HDL) cholesterol and the accumulation of lipoprotein X (LpX). Renal failure is the major cause of morbidity and mortality in these patients, and the abnormalities in the lipoprotein profile may contribute to the pathogenesis of renal disease.
Article
Multidisciplinary Sciences
Go Kanzaki, Nobuo Tsuboi, Takashi Yokoo, Noriko Uesugi, Kengo Furuichi, Akira Shimizu, Hitoshi Sugiyama, Hiroshi Sato, Hitoshi Yokoyama, Japanese Soc Nephrology
Summary: We analyzed the seasonal variations in the number of renal biopsies and clinical characteristics of primary glomerular disease in Japan using the Japan Renal Biopsy Registry. The study found that the number of patients with IgA nephropathy or minimal change nephrotic syndrome was higher during summer. However, no obvious seasonal variations were observed in patients with membranous nephropathy or postinfectious acute glomerulonephritis. The findings suggest that seasonal factors influence the decision to perform renal biopsy and the pathogenesis of primary glomerular disease.
SCIENTIFIC REPORTS
(2023)
Article
Urology & Nephrology
Karen Courville, Rolando Milord, Jonathan Cerrud, Norman Bustamante
Summary: The SARS-CoV-2 pandemic has made tasks like outpatient evaluation more difficult due to implemented restrictions. A tertiary care hospital in Panama, originally for kidney biopsy referral, was transformed into a COVID-only hospital to handle the large number of COVID-19 patients. To address the inability to follow up with patients with nephrotic or nephritic syndrome, a biopsy program was implemented in a smaller nephrology center in Panama. The experience demonstrated that accurate diagnoses and appropriate treatment guidance can be obtained through kidney biopsy programs in both large referral centers and small nephrology centers.
JOURNAL OF NEPHROLOGY
(2022)
Article
Urology & Nephrology
Sanjeev Sethi, Benjamin Madden, Marta Casal Moura, Samih H. Nasr, Nattawat Klomjit, LouAnn Gross, Vivian Negron, M. Cristine Charlesworth, Mariam P. Alexander, Nelson Leung, Ulrich Specks, Fernando C. Fervenza, Mark Haas
Summary: In this study, a novel antigen associated with membranous nephropathy (MN) in patients receiving hematopoietic stem cell transplant (HSCT) was identified using laser microdissection and tandem mass spectrometry (MS/MS). The antigen, called FAT1, was detected in the glomeruli of patients with PLA2R-negative MN. Further studies confirmed the presence of FAT1-associated MN in a majority of HSCT-related MN cases. This study provides valuable insights into the pathogenesis of MN in HSCT patients and may contribute to the development of targeted therapies.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Pediatrics
Ben C. Reynolds, Angela Lamb, Caroline A. Jones, Pallavi Yadav, Kay S. Tyerman, Colin C. Geddes
Summary: This case series reports the use of OFA in managing FSGS recurrence post-kidney transplantation in seven UK patients. Out of the seven patients, four achieved complete urinary remission, three had normal graft function, while two showed partial remission and one did not respond to treatment. Conclusions suggest OFA may be a useful addition to therapeutic options in such cases.
PEDIATRIC NEPHROLOGY
(2022)
Review
Urology & Nephrology
Sanjeev Sethi
Summary: Membranous nephropathy is a disease caused by immune complex deposition along the glomerular basement membrane, with PLA2R and THSD7A being the main antigens. New mass spectrometry techniques have led to the discovery of four novel types of MN, each with distinct clinical and pathologic features. Additional studies are needed to understand the pathophysiology, treatment response, and outcomes of these new MN subtypes.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Pediatrics
Vidushi Mahajan, Anam Siddiqui, Anita Tahlan, Sanjay D'Cruz, Shivani Jaiswal
Summary: The study aimed to estimate the prevalence of anemia in children with nephrotic syndrome, determine its etiology, and correlate severity with disease duration and response to steroids. Out of 125 children analyzed, 33% were found to be anemic, with 51% of them having iron deficiency anemia. The prevalence of steroid resistance was higher in the anemic group, but the difference was not statistically significant.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)