Indian man's kidneys grew to size of a baby due to genetic disease

The man, who was treated at a hospital in Delhi, was suffering from autosomal dominant polycystic kidney disease, a genetic condition that caused his organs to grow to 20 times their normal size.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

Related Links:

Publication date: Available online 30 March 2018Source: American Journal of Kidney DiseasesAuthor(s): Erin L. Murphy, Madeline L. Droher, Miriam S. DiMaio, Neera K. DahlAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD). Affected individuals have a 50% chance of passing the mutation to each of their offspring. Assisted reproductive technology using preimplantation genetic diagnosis (PGD) allows these individuals to r...
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
Progressive cyst expansion in autosomal-dominant polycystic kidney disease has been shown to cause regional hypoxia in cystic and pericystic tissue. This results in up-regulation of hypoxia-inducible transcription factor (HIF) 1 α in cyst epithelial cells. However, the functional impact of HIF-1α in cystic kidney disease was unknown. A new study has shown that HIF-1α promotes cyst progression in a mouse model of autosomal-dominant polycystic kidney disease.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Commentary Source Type: research
Cyst infection is a common and serious complication of autosomal dominant polycystic kidney disease (ADPKD) that is often refractory. Carbapenems are frequently needed to treat to patients with refractory cyst...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Research article Source Type: research
Autosomal dominant polycystic kidney disease (ADPKD), the commonest inherited kidney disease, is generally caused by heterozygous mutations in PKD1, PKD2, or GANAB (PKD3).
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
A 79-year old patient with an asymptomatic 63-mm infrarenal abdominal aortic aneurysm, confirmed on computed tomography, was admitted in our unit. The patient had undergone kidney transplantation years before, due to renal failure secondary to polycystic kidney disease. Renal function at admission was normal. The aneurysm had a very short neck, and a standard endovascular aortic repair procedure was not feasible. So, the two renal arteries were embolized with coils and endovascular repair of the aneurysm, covering the ostia of the renal arteries, was achieved placing the endoprosthesis up to the level of superior mesenteric artery.
Source: Annals of Vascular Surgery - Category: Surgery Authors: Source Type: research
Abstract In polycystic kidney disease (PKD), persistent activation of cell proliferation and matrix production contributes to cyst growth and fibrosis, leading to progressive deterioration of renal function. Previously, we showed that periostin, a matricellular protein involved in tissue repair, is overexpressed by cystic epithelial cells of PKD kidneys. Periostin binds αVβ3-integrins and activates integrin-linked kinase (ILK), leading to Akt/mTOR-mediated proliferation of human PKD cells. By contrast, periostin does not stimulate the proliferation of normal human kidney cells. This difference in the re...
Source: Am J Physiol Renal P... - Category: Urology & Nephrology Authors: Tags: Am J Physiol Renal Physiol Source Type: research
Authors: Poch E, Rodas L, Blasco M, Molina A, Quintana L Abstract Tolvaptan is an orally active antagonist of vasopressin (antidiuretic hormone [ADH]) V2 receptors. By blocking water reabsorption in kidney collecting ducts, it prompts renal free-water excretion and has been used for the treatment of hyponatremia, both euvolemic due to the syndrome of inappropriate ADH secretion, and hypervolemic due to liver cirrhosis and congestive heart failure. In the past few years, it has been shown that vasopressin and its second messenger cyclic adenosine monophosphate (cAMP) play an important role in the pathogenesis of aut...
Source: Drugs of Today - Category: Drugs & Pharmacology Tags: Drugs Today (Barc) Source Type: research
Obstructive kidney disease is a common urologic diagnosis and includes kidney stones, polycystic kidney disease, and renal artery stenosis. Kidney stones are a common emergency department admission in the United States. Men are affected more than women. Polycystic kidney disease is a genetic renal disease that may not reveal symptoms until an individual reaches age 30 years. Renal artery stenosis contributes to decreased perfusion to the kidneys, which contributes to hypertension and end-stage renal disease.
Source: Nursing Clinics of North America - Category: Nursing Authors: Source Type: research
ConclusionTIPS placement in pediatric patients has high technical success with excellent resolution of variceal hemorrhage and ascites. TIPS revision was required in nearly half of the cohort, with hepatic encephalopathy common after shunt placement.
Source: Pediatric Radiology - Category: Radiology Source Type: research
Publication date: 1 November 2018Source: Life Sciences, Volume 212Author(s): Ming-Yang Chang, Chun-Yih Hsieh, Chan-Yu Lin, Tai-Di Chen, Huang-Yu Yang, Kuan-Hsing Chen, Hsiang-Hao Hsu, Ya-Chung Tian, Yung-Chang Chen, Cheng-Chieh Hung, Chih-Wei YangAbstractAimsCelastrol, a naturally occurring pentacyclic triterpene, has attracted considerable interest because it exhibits potent anti-inflammatory and anti-tumor properties. However, the effects of celastrol in autosomal dominant polycystic kidney disease (ADPKD) remain uninvestigated.Main methodsWe determined the effects of celastrol on ADPKD progression in a novel Pkd1-hypomo...
Source: Life Sciences - Category: Biology Source Type: research
More News: Babies | Genetics | Health | Hospitals | Polycystic Kidney Disease | Urology & Nephrology