Amin J. Barakat (born November 2, 1942) is a Lebanese-American physician [1] known for the description of Barakat syndrome.
Barakat was in full-time pediatric practice at Northern Virginia Pediatric Associates before retiring in 2020. [2] He is certified by the American Board of Pediatrics. He is also clinical professor of pediatrics and pediatric nephrology at Georgetown University. [3] Barakat is a member of the ALSAC/St Jude Children's Research Hospital Leadership Council, [4] and president of the American Foundation for Saint George Hospital. [5]
Barakat was born in Mounsef, Byblos, Lebanon, and attended Tripoli Boys School in Tripoli and International College, Beirut. He received his college and medical education at the American University of Beirut (AUB). From 1967 to 1970, he completed pediatric residencies at AUB and Johns Hopkins Hospital in Baltimore, and then obtained fellowship training in pediatric nephrology at Georgetown University from 1970 to 1972. Barakat has held academic teaching positions at AUB, Vanderbilt and Georgetown universities. [6]
Barakat is married to Amal Nassar and has three children. He lives in Vienna, Virginia.
Barakat's focus in research has been with children with rare hereditary and congenital kidney disease.
In 1977, Barakat and co-authors J.B. D'Albora, M.M. Martin, and P.A. Jose described four siblings with familial nephrosis, nerve deafness, and hypoparathyroidism. This syndrome is now known as Barakat syndrome. [7] [8]
Barakat syndrome is an inherited condition characterized by hypoparathyroidism, sensorineural hearing loss, and renal (kidney) disease. Most cases have been attributed to a mutation on chromosome 10p which affects the GATA3 gene. [9] Inheritance is likely autosomal dominant. Treatment is symptomatic and supportive. [10] [11] [12] [13]
In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. 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.
Urology, also known as genitourinary surgery, is the branch of medicine that focuses on surgical and medical diseases of the urinary system and the reproductive organs. Organs under the domain of urology include the kidneys, adrenal glands, ureters, urinary bladder, urethra, and the male reproductive organs.
Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often present on the abdomen of those with the disorder.
Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.
Pyelonephritis is inflammation of the kidney, typically due to a bacterial infection. Symptoms most often include fever and flank tenderness. Other symptoms may include nausea, burning with urination, and frequent urination. Complications may include pus around the kidney, sepsis, or kidney failure.
Hydronephrosis describes hydrostatic dilation of the renal pelvis and calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dilation of the entire upper urinary tract.
Horseshoe kidney, also known as ren arcuatus, renal fusion or super kidney, is a congenital disorder affecting about 1 in 500 people that is more common in men, often asymptomatic, and usually diagnosed incidentally. In this disorder, the patient's kidneys fuse to form a horseshoe-shape during development in the womb. The fused part is the isthmus of the horseshoe kidney. The abnormal anatomy can affect kidney drainage resulting in increased frequency of kidney stones and urinary tract infections as well as increase risk of certain renal cancers.
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.
Pyonephrosis is a dangerous kidney infection that is characterized by pus accumulation in the renal collecting system. It is linked to renal collecting system blockage and suppurative renal parenchymal destruction, which result in complete or nearly complete kidney failure.
Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity that was first described by Amin J. Barakat et al. in 1977.
Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows retrograde, or backward, from the bladder into one or both ureters and then to the renal calyx or kidneys. Urine normally travels in one direction from the kidneys to the bladder via the ureters, with a one-way valve at the vesicoureteral (ureteral-bladder) junction preventing backflow. The valve is formed by oblique tunneling of the distal ureter through the wall of the bladder, creating a short length of ureter (1–2 cm) that can be compressed as the bladder fills. Reflux occurs if the ureter enters the bladder without sufficient tunneling, i.e., too "end-on".
Townes–Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. The condition was first identified in 1972. by Philip L. Townes, who was at the time a human geneticists and Professor of Pediatrics, and Eric Brocks, who was at the time a medical student, both at the University of Rochester.
Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development. The kidney consists of irregular cysts of varying sizes. Multicystic dysplastic kidney is a common type of renal cystic disease, and it is a cause of an abdominal mass in infants.
Urologic diseases or conditions include urinary tract infections, kidney stones, bladder control problems, and prostate problems, among others. Some urologic conditions do not affect a person for that long and some are lifetime conditions. Kidney diseases are normally investigated and treated by nephrologists, while the specialty of urology deals with problems in the other organs. Gynecologists may deal with problems of incontinence in women.
Bladder outlet obstruction occurs when urine is unable to flow from the kidneys through the ureters and out of the bladder through the urethra. Decreased flow of urine leads to swelling of the urinary tract, called hydronephrosis. This process of decreased flow of urine through the urinary tract can begin as early as during intrauterine life and it prevents normal development of fetal kidneys and fetal urine. Low levels of fetal urine leads to low amniotic fluid levels and incomplete lung maturation. Older children and adults can also experience bladder outlet obstruction; however, this process is usually reversible and isn't associated with as many poor outcomes as in infants with congenital bladder outlet obstruction.
Supernumerary nipples–uropathies–Becker's nevus syndrome is a skin condition that may be associated with genitourinary tract abnormalities. Supernumerary nipples, also referred to as polythelia or accessory nipples, is a pigmented lesion of the skin that is present at birth. This pigmentation usually occurs along the milk lines, which are the precursors to breast and nipple development. Clinically, this congenital condition is generally considered benign, but some studies have suggested there may be an association with kidney diseases and cancers of the urogenital system.
Glomerulocystic kidney disease (GCKD) is a cystic disorder of the kidneys. GCKD involves cystic dilation of Bowman's capsule. It can occur with or without congenital abnormality.
Jochen H.H. Ehrich is a German pediatric doctor in the fields of nephrology and tropical medicine, professor emeritus and Former Head of the Department of Paediatric Kidney, Liver and Metabolic Diseases at the Children’s Hospital, Hannover Medical School, in Hannover, Germany.
Thomas Martin Barratt was a British paediatrician and professor of paediatric nephrology. Barratt was most notable for developing a specialist service for children with kidney diseases in Britain, bringing peritoneal dialysis, haemodialysis, and later renal transplantation to ever younger children. Barratt was an early advocate for multidisciplinary care and developed a model that was later taken up by many other specialist centres across the world. His research led to a new treatments for many types of childhood kidney diseases., and for research into childhood Nephrotic syndrome and Hemolytic-uremic syndrome.
Renal hypoplasia is a congenital abnormality in which one or both of the kidneys are smaller than normal, resulting in a reduced nephron number but with normal morphology.
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