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

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Polycystic kidney disease (PKD) is a group of monogenetic conditions characterised by the progressive accumulation of multiple renal cysts and hypertension. One of the earliest features of PKD is a reduction in urinary concentrating capacity that impairs extracellular fluid conservation. Urinary concentrating impairment predisposes PKD patients to periods of hypohydration when fluid loss is not adequately compensated by fluid intake. The hypohydrated state provides a blood hyperosmotic stimulus for vasopressin release to minimise further water loss. However, over-activation of renal V2 receptors contributes to cyst expansi...
Source: Annals of Nutrition and Metabolism - Category: Nutrition Source Type: research
Recent experiments using optogenetic tools allow the identification and functional analysis of thirst neurons and vasopressin producing neurons. Two major advances provide a detailed anatomy of taste for water and arginine-vasopressin (AVP) release: (1) thirst and AVP release are regulated not only by the classical homeostatic, intero-sensory plasma osmolality negative feedback, but also by novel, extero-sensory, anticipatory signals. These anticipatory signals for thirst and vasopressin release converge on the same homeostatic neurons of circumventricular organs that monitor the composition of the blood; (2) acid-sensing ...
Source: Annals of Nutrition and Metabolism - Category: Nutrition Source Type: research
AbstractPurposeTo compare dual-energy CT (DECT) iodine overlay images with renal mass protocol CT in the evaluation of polycystic kidneys with respect to reading time, diagnostic confidence, and detection of renal lesions that are not definitively benign.MethodsFollowing IRB approval, portal venous phase dual-source DECT scans performed between September 2013 and February 2016 from 55 patients (mean age 67  ± 15 years, 31 male, 24 female) with polycystic kidneys (4 or more cysts) were included. For each patient, two image sets were created: (1) DECT post-processed iodine overlay images and (2) sim...
Source: Abdominal Imaging - Category: Radiology Source Type: research
Mutations in PKD1 and PKD2 are the leading cause of autosomal dominant polycystic kidney disease (ADPKD). In this issue of Genes &Development, a report by Cai and colleagues (pp. 781–793) reveals new insight into the molecular basis by which PKD1 deficiency leads to cystic kidney pathogenesis. By using extensive mouse genetic analyses coupled with in vitro cystic assays, the investigators delineate a RhoA–YAP–c-Myc signaling axis as a key downstream from PKD1 deficiency in ADPKD pathogenesis. Their findings provide evidence that the Hippo pathway could be a potential target for treating ADPKD.
Source: Genes and Development - Category: Genetics & Stem Cells Authors: Tags: Cell Biology, Cancer and Disease Models Outlook Source Type: research
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder caused by mutations in PKD1 or PKD2 and affects one in 500–1000 humans. Limited treatment is currently available for ADPKD. Here we identify the Hippo signaling effector YAP and its transcriptional target, c-Myc, as promoters of cystic kidney pathogenesis. While transgenic overexpression of YAP promotes proliferation and tubule dilation in mouse kidneys, loss of YAP/TAZ or c-Myc suppresses cystogenesis in a mouse ADPKD model resulting from Pkd1 deficiency. Through a comprehensive kinase inhibitor screen based on a novel three-dimensional (3...
Source: Genes and Development - Category: Genetics & Stem Cells Authors: Tags: Research Papers Source Type: research
Caroli ´s syndrome is a rare congenital disease with an incidence of 1:1,000,000 characterized by a non-obstructive segmental cystic dilation of large intrahepatic bile ducts [1]. There are two distinguishable forms: Caroli’s syndrome, which is associated with congenital hepatic fibrosis and cirrhosis a nd Caroli’s disease, a much more rare condition which is linked with autosomal recessive polycystic kidney disease [2]. Caroli’s syndrome can affect young women in their childbearing age, however, due its rare incidence there is paucity of data in the literature [2–4].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Correspondence Source Type: research
Autosomal dominant polycystic kidney disease (ADPKD) is a debilitating disease that is characterized by the accumulation of numerous fluid-filled cysts in the kidney. ADPKD is primarily caused by mutations in two genes, PKD1 and PKD2. Long noncoding RNAs (lncRNA), defined by a length>200 nucleotides and absence of a long ORF, have recently emerged as epigenetic regulators of development and disease; however, their involvement in PKD has not been explored previously. Here, we performed deep RNA-Seq to identify lncRNAs that are dysregulated in two orthologous mouse models of ADPKD (kidney-specific Pkd1 and Pkd2 mutant mic...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: RNA Source Type: research
PKD is a genetic disease that is characterized by abnormally proliferative epithelial cells in the kidney and liver. Urinary exosomes have been previously examined as a source of unique proteins that may be us...
Source: BMC Research Notes - Category: Research Authors: Tags: Research note Source Type: research
AbstractA 40-year-old woman had been followed as an outpatient to manage chronic kidney disease secondary to autosomal dominant polycystic kidney disease (ADPKD). Atrial premature contraction was found incidentally on an electrocardiogram during her regular follow-up examination. Subsequent transthoracic echocardiography detected an abnormal structure located very close to the left ventricular outflow tract (23  mm long × 15 mm wide in diastole). The structure was finally diagnosed as congenital left ventricular diverticulum (CLVD) using transesophageal echocardiography, contrast-enhanced comp...
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research
AbstractGlycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase (G6Pase) deficiency, translating in hypoglycemia during short fasts. Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease (CKD). In GSDI patients, CKD is characterized by an accumulation of glycogen and lipids in kidneys, leading to a gradual decline in renal function. At a molecular level, the activation of the renin-angiotensin system is responsible for the development of renal fibrosis, eventually leading to renal failure. The same CKD phenotype wa...
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
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