Fabiola Terzi is an Italian-French scientist and physician. She is known for her research on chronic kidney disease. Since January 2020, she serves as the director of the research Institut Necker-Enfants Malades (INEM) in Paris. [1]
Fabiola Terzi attended medical school at the University of Milan where she graduated with a medical degree (M.D.) in 1986. [2] [3] She then trained as a pediatrician in the team of Professor Fabio Sereni in Milan specializing in pediatric nephrology. [2] [3] In 1989 she moved to Paris where she continued her specialization in pediatric nephrology in the team of Professor Michael Broyer and started a Ph.D. project under the supervision of Professor Claire Kleinknecht (Université Paris Diderot, Paris) developing her interest for the molecular mechanisms of renal diseases. [2] [3] [4] [5] After her doctorate, she went on to train as a postdoc, first in the team of Professor Pascal Briand (Institut Cochin, Paris), then in the team of Professor Gérard Friedlander (Faculté de Médecine, Site Bichat, Paris). [2] [3] [6] [7]
With time she progressively focused on the physiopathology of chronic kidney disease (CKD). From 2003 on, she began to build up her own laboratory ("Mechanisms and Therapeutic Strategies of Chronic Kidney Disease"), which she has headed since then. [2] [3] Upon the founding of the Institute Necker-Enfants Malades (INEM) in 2014, a research center affiliated to the French National Institute of Health and Medical Research, the French National Center for Scientific Research and to the University of Paris, she became head of the “Growth and Signaling” department. [2] [3] Since January 2020, she serves as the director of INEM responsible for 19 research teams (as of April 2022). [1] [3] Besides, she is editor of the “Experimental Nephrology and Genetics” section of the journal Nephron since 2015. [8]
Fabiola Terzi’s scientific work centers on the cellular events contributing either to the prevention or progression of chronic kidney disease (CKD) and on characterizing the pathways and genetic programs underlying these events. [9] She developed distinct experimental models of CKD, above all a model of nephron reduction, leading her to the discovery of pathways and potential pharmacological targets driving CKD. [10] [11] [12] In particular, her team revealed a detrimental role of the epidermal growth factor receptor (EGFR) pathway in the fate of CKD, the activation of which aggravates renal lesions after nephron reduction. [13] [14]
Beyond that, she has been involved in several translational studies that have succeeded in the identification of novel biomarkers (of the progression) of renal diseases in humans. These latter are protected by five patent filings (as of April 2022). [3]
Along with other world-renowned CKD experts, she is co-initiator of TrainCKDis, a European training programme intended to prepare the next generation of top-level CKD scientists funded by the European Union’s Horizon 2020 research and innovation programme. [15]
For her scientific contributions to the field of nephrology she has been awarded the Grand Prize of the French National Academy of Medicine (French: Grand Prix de l’Académie Nationale de Médecine) in 2009 and the Prize of the French Kidney Foundation (French: Prix de la Fondation du Rein) in 2011. [3] [16] [17]
The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about 12 centimetres in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder.
Nephrology is a specialty of adult internal medicine and pediatric medicine that concerns the study of the kidneys, specifically normal kidney function and kidney disease, the preservation of kidney health, and the treatment of kidney disease, from diet and medication to renal replacement therapy. The word “renal” is an adjective meaning “relating to the kidneys”, and its roots are French or late Latin. Whereas according to some opinions, "renal" and "nephro" should be replaced with "kidney" in scientific writings such as "kidney medicine" or "kidney replacement therapy", other experts have advocated preserving the use of renal and nephro as appropriate including in "nephrology" and "renal replacement therapy", respectively.
Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal, monogenic human disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias. Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation. ADPKD is estimated to affect at least one in every 1000 individuals worldwide, making this disease the most common inherited kidney disorder with a diagnosed prevalence of 1:2000 and incidence of 1:3000-1:8000 in a global scale.
The collecting duct system of the kidney consists of a series of tubules and ducts that physically connect nephrons to a minor calyx or directly to the renal pelvis. The collecting duct system is the last part of nephron and participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and vasopressin.
Renal functions include maintaining an acid–base balance; regulating fluid balance; regulating sodium, potassium, and other electrolytes; clearing toxins; absorption of glucose, amino acids, and other small molecules; regulation of blood pressure; production of various hormones, such as erythropoietin; and activation of vitamin D.
Assessment of kidney function occurs in different ways, using the presence of symptoms and signs, as well as measurements using urine tests, blood tests, and medical imaging.
Chronic kidney disease (CKD) is a type of kidney disease in which there is gradual loss of kidney function over a period of months to years. Initially there are generally no symptoms; later, symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications can relate to hormonal dysfunction of the kidneys and include high blood pressure, bone disease, and anemia. Additionally CKD patients have markedly increased cardiovascular complications with increased risks of death and hospitalization.
Metabolic acidosis is a serious electrolyte disorder characterized by an imbalance in the body's acid-base balance. Metabolic acidosis has three main root causes: increased acid production, loss of bicarbonate, and a reduced ability of the kidneys to excrete excess acids. Metabolic acidosis can lead to acidemia, which is defined as arterial blood pH that is lower than 7.35. Acidemia and acidosis are not mutually exclusive – pH and hydrogen ion concentrations also depend on the coexistence of other acid-base disorders; therefore, pH levels in people with metabolic acidosis can range from low, normal, to high.
Renal osteodystrophy/adynamic bone disease is currently defined as an alteration of bone morphology in patients with chronic kidney disease (CKD). It is one measure of the skeletal component of the systemic disorder of chronic kidney disease-mineral and bone disorder (CKD-MBD). The term "renal osteodystrophy" was coined in 1943, 60 years after an association was identified between bone disease and kidney failure.
Microalbuminuria is a term to describe a moderate increase in the level of urine albumin. It occurs when the kidney leaks small amounts of albumin into the urine, in other words, when an abnormally high permeability for albumin in the glomerulus of the kidney occurs. Normally, the kidneys filter albumin, so if albumin is found in the urine, then it is a marker of kidney disease. The term microalbuminuria is now discouraged by Kidney Disease Improving Global Outcomes and has been replaced by moderately increased albuminuria.
Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine. In renal physiology, when blood is filtered by the kidney, the filtrate passes through the tubules of the nephron, allowing for exchange of salts, acid equivalents, and other solutes before it drains into the bladder as urine. The metabolic acidosis that results from RTA may be caused either by insufficient secretion of hydrogen ions into the latter portions of the nephron or by failure to reabsorb sufficient bicarbonate ions from the filtrate in the early portion of the nephron. Although a metabolic acidosis also occurs in those with chronic kidney disease, the term RTA is reserved for individuals with poor urinary acidification in otherwise well-functioning kidneys. Several different types of RTA exist, which all have different syndromes and different causes. RTA is usually an incidental finding based on routine blood draws that show abnormal results. Clinically, patients may present with vague symptoms such as dehydration, mental status changes, or delayed growth in adolescents.
Jean Hamburger was a French physician, surgeon and essayist. He is particularly known for his contribution to nephrology, and for having performed the first renal transplantation in France in 1952.
Nephrocalcinosis, once known as Albright's calcinosis after Fuller Albright, is a term originally used to describe deposition of calcium salts in the renal parenchyma due to hyperparathyroidism. The term nephrocalcinosis is used to describe the deposition of both calcium oxalate and calcium phosphate. It may cause acute kidney injury. It is now more commonly used to describe diffuse, fine, renal parenchymal calcification in radiology. It is caused by multiple different conditions and is determined progressive kidney dysfunction. These outlines eventually come together to form a dense mass. During its early stages, nephrocalcinosis is visible on x-ray, and appears as a fine granular mottling over the renal outlines. It is most commonly seen as an incidental finding with medullary sponge kidney on an abdominal x-ray. However, it may be severe enough to cause renal tubular acidosis or even end stage kidney disease, due to disruption of the kidney tissue by the deposited calcium.
Lori Hartwell is the Founder and President of the Renal Support Network, author of Chronically Happy: Joyful Living in Spite of Chronic Illness, and co-host of KidneyTalk, a biweekly webcast of issues of interest to those with Chronic Kidney Disease (CKD).
Polycystic kidney disease is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well.
Carmine Zoccali is an Italian nephrologist and a clinical investigator. He has contributed to research in several fields, most notably hypertension and cardiovascular complications in chronic kidney disease (CKD), CKD progression and clinical epidemiology of kidney diseases at large. He is known for his studies on cardiovascular risk in CKD and dialysis patients. He was among the earliest investigators that focused on the relevance of endothelial dysfunction and inflammation for the high risk of cardiovascular disease in these populations. In this research area, he was the first to link endogenous inhibitors of the nitric oxide system with death and cardiovascular disease. and the first to document a relationship between sympathetic over-activity and these outcomes Dr Zoccali is a practicing specialist in Nephrology, with a national qualification for the full professorship in Nephrology. He is also a specialist in hypertension, certified by the European Society of Hypertension (ESH).
Onconephrology is a specialty in nephrology that deals with the study of kidney diseases in cancer patients. A nephrologist who takes care of patients with cancer and kidney disease is called an onconephrologist. This branch of nephrology encompasses nephrotoxicity associated with existing and novel chemotherapeutics, kidney disease as it pertains to stem cell transplant, paraneoplastic kidney disorders, paraproteinemias, electrolyte disorders associated with cancer, and more as discussed below.
Mesoamerican nephropathy (MeN) is an endemic, non-diabetic, non-hypertensive chronic kidney disease (CKD) characterized by reduced glomerular filtration rate (GFR) with mild or no proteinuria and no features of known primary glomerular diseases. MeN is prevalent in agricultural communities along the Pacific Ocean coastal lowlands Mesoamerica, including southern Mexico, Guatemala, El Salvador, Nicaragua, Honduras and Costa Rica. Although most cases have been described among agricultural workers, MeN has also been described in other occupations, including miners, brick manufacturers, and fishermen. A common denominator among these occupations is that they are outdoor workers who reside in rural areas in hot and humid climates.
Marina Cavazzana is a professor of Paediatric Immunology at the Necker-Enfants Malades Hospital and the Imagine Institute, as well as an academic at Paris Descartes University. She was awarded the Irène Joliot-Curie Prize in 2012 and elected to the National Academy of Medicine in 2019.
Adeera Levin MD, FRCPC is a Professor of Medicine, and is head of the Division of Nephrology at University of British Columbia.
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