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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. 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.
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.
Kidney stone disease, also known as renal calculus disease, nephrolithiasis or urolithiasis, is a crystallopathy where a solid piece of material develops in the urinary tract. Renal calculi typically form in the kidney and leave the body in the urine stream. A small calculus may pass without causing symptoms. If a stone grows to more than 5 millimeters, it can cause blockage of the ureter, resulting in sharp and severe pain in the lower back that often radiates downward to the groin. A calculus may also result in blood in the urine, vomiting, or painful urination. About half of people who have had a renal calculus are likely to have another within ten years.
Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome leading to the complete or partial deletion of the pseudoautosomal regions in the affected X chromosome. Most people have two sex chromosomes. The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. 45,X0 with mosaicism can occur in males or females, but Turner syndrome without mosaicism only occurs in females. Signs and symptoms vary among those affected. Often, additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, shorter height, and lymphedema of the hands and feet. Typically, those affected do not develop menstrual periods or mammary glands without hormone treatment and are unable to reproduce without assistive reproductive technology. Small chin(micrognathia),loose folds of skin on the neck, slanted eyes, and prominent ears are found in Turner syndrome, though not all will show it. Heart defects, Type II diabetes, and hypothyroidism occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics. Ptosis and conductive hearing loss also occur more often than average.
Organ transplantation is a medical procedure in which an organ is removed from one body and placed in the body of a recipient, to replace a damaged or missing organ. The donor and recipient may be at the same location, or organs may be transported from a donor site to another location. Organs and/or tissues that are transplanted within the same person's body are called autografts. Transplants that are recently performed between two subjects of the same species are called allografts. Allografts can either be from a living or cadaveric source.
A pancreas transplant is an organ transplant that involves implanting a healthy pancreas into a person who usually has diabetes.
Caroli disease is a rare inherited disorder characterized by cystic dilatation of the bile ducts within the liver. There are two patterns of Caroli disease: focal or simple Caroli disease consists of abnormally widened bile ducts affecting an isolated portion of liver. The second form is more diffuse, and when associated with portal hypertension and congenital hepatic fibrosis, is often referred to as "Caroli syndrome". The underlying differences between the two types are not well understood. Caroli disease is also associated with liver failure and polycystic kidney disease. The disease affects about one in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease.
Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. RCC is the most common type of kidney cancer in adults, responsible for approximately 90–95% of cases. It is more common in men. It is most commonly diagnosed in the elderly.
Chronic kidney disease (CKD) is a type of long-term kidney disease, in which either there is a gradual loss of kidney function which occurs over a period of months to years, or an abnormal kidney structure. Initially generally no symptoms are seen, but 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. CKD can lead to kidney failure requiring kidney dialysis or kidney transplantation.
The renal arteries are paired arteries that supply the kidneys with blood. Each is directed across the crus of the diaphragm, so as to form nearly a right angle.
Kidney transplant or renal transplant is the organ transplant of a kidney into a patient with end-stage kidney disease (ESRD). Kidney transplant is typically classified as deceased-donor or living-donor transplantation depending on the source of the donor organ. Living-donor kidney transplants are further characterized as genetically related (living-related) or non-related (living-unrelated) transplants, depending on whether a biological relationship exists between the donor and recipient. The first successful kidney transplant was performed in 1954 by a team including Joseph Murray, the recipient's surgeon, and Hartwell Harrison, surgeon for the donor. Murray was awarded a Nobel Prize in Physiology or Medicine in 1990 for this and other work. In 2018, an estimated 95,479 kidney transplants were performed worldwide, 36% of which came from living donors.
A nephrectomy is the surgical removal of a kidney, performed to treat a number of kidney diseases including kidney cancer. It is also done to remove a normal healthy kidney from a living or deceased donor, which is part of a kidney transplant procedure.
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.
Primary hyperparathyroidism is a medical condition where the parathyroid gland produce excess amounts of parathyroid hormone (PTH). The symptoms of the condition relate to the resulting elevated serum calcium (hypercalcemia), which can cause digestive symptoms, kidney stones, psychiatric abnormalities, and bone disease.
The history of tuberous sclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disease that can cause benign tumours to grow on the brain or other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioural problems and skin abnormalities, as well as lung and kidney disease. TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively. These proteins act as tumour growth suppressors and regulate cell proliferation and differentiation. Originally regarded as a rare pathological curiosity, it is now an important focus of research into tumour formation and suppression.
Loin pain hematuria syndrome (LPHS) is the combination of debilitating unilateral or bilateral flank pain and microscopic or macroscopic amounts of blood in the urine that is otherwise unexplained.
Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene.
Surgical Outcomes Analysis & Research, SOAR, is a research laboratory of the Department of Surgery at Boston University School of Medicine and Boston Medical Center with expertise in outcomes research. SOAR investigates surgical diseases and perioperative outcomes. The group focuses on pancreatic cancer, other gastrointestinal and hepatobiliary malignancies, vascular disease, and transplant surgery. SOAR's goal is to examine quality, delivery, and financing of care in order to have an immediate impact on patient care and system improvements. The group members utilize national health services and administrative databases, as well as institutional databases, to investigate and to address factors contributing to disease outcomes and healthcare disparities.
Richard C. Lillehei was an American transplant surgeon who performed the world's first successful simultaneous pancreas-kidney transplant in 1966 and the first known human intestinal transplantation. He came from a renowned medical family in Minneapolis; his father was a dentist and his brothers were cardiologist James Lillehei and cardiothoracic surgeon C. Walton Lillehei. The Lillehei Surgical Society is named in honour of the three brothers.
Gaetano Ciancio is an Italian American surgeon at the University of Miami who specializes in kidney transplant. He is the chief medical and academic officer of the Miami Transplant Institute and the director of its Kidney & Kidney-Pancreas Programs. His most significant contributions to medicine are related to surgically treating kidney cancer once it has spread to the inferior vena cava and in optimizing the immunosuppression protocol after kidney transplant.
References
- 1 2 3 Mogorovich, Andrea; Selli, Cesare; De Maria, Maurizio; Manassero, Francesca; Durante, Jacopo; Urbani, Lucio (November 2018). "Clinical reappraisal and state of the art of nephropexy". Urologia Journal. 85 (4): 135–144. doi:10.1177/0391560317749191.
- ↑ Barber, N.J.; Thompson, P.M. (October 2004). "Nephroptosis and Nephropexy—Hung Up on the Past?". European Urology. 46 (4): 428–433. doi:10.1016/j.eururo.2004.03.023.
- ↑ Hatzinger M, Langbein S, de la Rosette J, Sohn M, Alken P (2007). "[Nephropexy in the course of time : Aspects of an historical surgical technique.]". Der Urologe. 46 (2): 166–9. doi:10.1007/s00120-006-1280-7. PMID 17221244.
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