Results 31 to 40 of about 552,750 (375)

Nephronophthisis and medullary cystic kidney disease complex [PDF]

Vojnosanitetski Pregled, 2005
Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana, Hrvačević Rajko, Paunić Zoran, Petrović Stanko   +3 more
doaj   +1 more source

Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation

Medeniyet Medical Journal, 2021
Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome.
Nilüfer Göknar, Melda Ekici Avcı, Diana Üçkardeş, Emre Keleşoğlu, Kübra Tekkuş Ermiş, Cengiz Candan   +5 more
doaj   +1 more source

Clinical utility of genetic testing in Indian children with kidney diseases

BMC Nephrology, 2023
Background Kidney diseases with genetic etiology in children present with an overlapping spectrum of manifestations. We aimed to analyze the clinical utility of genetic testing in the diagnosis and management of suspected genetic kidney diseases in ...
Anshuman Saha, Shahenaz F. Kapadia, Kinnari B Vala, Himanshu V. Patel   +3 more
doaj   +1 more source

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Acta Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė, Meda Sutkevičiūtė, Birutė Burnytė, Kristina Grigalionienė, Augustina Jankauskienė   +4 more
doaj   +1 more source

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Kidney International, 2013
Rare single-gene disorders cause chronic disease. However, half of the 6,000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers ...
H. Gee, E. Otto, T. Hurd, S. Ashraf, M. Chaki, A. Cluckey, V. Vega-Warner, P. Saisawat, Katrina A. Diaz, H. Fang, Stefan Kohl, Susan J Allen, R. Airik, Weibin Zhou, Gokul Ramaswami, Sabine Janssen, Clementine Fu, Jamie L. Innis, S. Weber, U. Vester, E. Davis, N. Katsanis, H. Fathy, N. Jeck, Gunther Klaus, A. Nayır, K. Rahim, I. Attrach, I. Hassoun, S. Ozturk, D. Drożdż, U. Helmchen, John F. O'Toole, M. Attanasio, G. Nürnberg, P. Nürnberg, J. Washburn, J. MacDonald, Jeffrey W. James, S. Levy, F. Hildebrandt   +40 more
semanticscholar   +1 more source

Bicaudal C mutation causes myc and TOR pathway up-regulation and polycystic kidney disease-like phenotypes in Drosophila. [PDF]

PLoS Genetics, 2017
Progressive cystic kidney degeneration underlies diverse renal diseases, including the most common cause of kidney failure, autosomal dominant Polycystic Kidney Disease (PKD).
Chiara Gamberi, David R Hipfner, Marie Trudel, William D Lubell   +3 more
doaj   +1 more source

Localized renal cystic disease

Indian Journal of Urology, 2015
Localized renal cystic disease (LRCD) is a rare benign non-hereditary, non-progressive condition which must be differentiated from other renal cystic diseases.
Ramakrishna Narayanan, Balasubramanyam Shankar, Chaitanya D Kulkarni   +2 more
doaj   +1 more source

Cystic kidney diseases: many ways to form a cyst

Pediatric nephrology (Berlin, West), 2012
Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Hannah Loftus, A. Ong
semanticscholar   +1 more source

The diagnostic value of ultrasound in cystic kidney diseases

Pediatric nephrology (Berlin, West), 2010
Renal cysts in childhood can be found in a variety of diseases, which can be congenital or acquired, or renal cysts may be part of a multiorgan disease or restricted to the kidneys only.
U. Vester, B. Kranz, P. Hoyer
semanticscholar   +1 more source

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Orphanet Journal of Rare Diseases, 2022
Background In pediatric hereditary cystic kidney diseases, epithelial cell defects mostly result from rare, autosomal recessively inherited pathogenic variants in genes encoding proteins of the cilia-centrosome complex.
Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner   +16 more
doaj   +1 more source