Results 111 to 120 of about 4,765 (160)
Therapeutic Potential for CFTR Correctors in Autosomal Recessive Polycystic Kidney DiseaseSummary
Cellular and Molecular Gastroenterology and Hepatology, 2021 Background & Aims: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in PKHD1, encoding fibrocystin/polyductin (FPC). Severe disease occurs in perinates. Those who survive the neonatal period face a myriad of comorbidities,
Murali K. Yanda +2 more
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Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]
, 2017 Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core +1 more source
Autosomal Recessive Polycystic Kidney Disease and Epidemiologic Factors
Journal of Comprehensive Pediatrics, 2017 Background: Autosomal recessive polycystic kidney disease (ARPKD) is a heterogeneous inherited disorder most commonly seen in childhood. The presentation is usually a palpable large mass in the flank or abdomen appearing at infancy or birth, leading to electrolyte abnormalities, pulmonary hypoplasia, oligohydramnious and the Potter’s syndrome.
Fereshte Maghsudlu +2 more
openaire +3 more sources
International Journal of Nephrology, 2017 Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic causes ...
Intisar Al Alawi +4 more
doaj +1 more source
An uncommon cause of portal hypertension in a toddler
International Journal of Advanced Medical and Health Research, 2017 Autosomal recessive polycystic kidney disease (ARPKD) affects the liver and the kidney. Renal involvement presents early in life, whereas hepatic involvement manifests slightly later with portal hypertension.
Sudipta Mohakud +5 more
doaj +1 more source
Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions
Journal of Arrhythmia, Volume 41, Issue 2, April 2025.
wiley +1 more source
Recurrent Fetal Polycystic Kidney Disease
Gomal Journal of Medical Sciences, 2013 Fetal genitourinary abnormalities consist of a wide spectrum of heterogenous malformations. Serial ultrasound evaluation starting from 15 weeks of gestation can be used as a screening modality.
Sadia Anwar, Sajjad Ahmad Baloch
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Neonatal autosomal recessive polycystic kidney disease [PDF]
Journal of Perinatology, 2008 Thomas E. Herman, Marilyn J. Siegel
openaire +3 more sources
Pyogenic liver abscess, polycystic pocket and chronic renal failure
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018 Pyogenic liver abscess usually has a serious clinical course. Occasionally the diagnosis is late and the mortality is high. This study presents the case of a 45-year-old male patient with chronic renal failure, with hemodialysis rejection, operated on ...
Arnulfo Gallego-Mariño +2 more
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