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AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Slovenska pediatrija, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj   +3 more sources

Educational Case: Autosomal Recessive Polycystic Kidney Disease

Academic Pathology, 2017
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ashley S. Hafer MPA, Richard M. Conran MD, PhD, JD   +1 more
doaj   +3 more sources

Cholangitis resembling Caroli’s syndrome in a patient with autosomal dominant polycystic kidney disease: Case report [PDF]

SAGE Open Medical Case Reports
Caroli’s syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease.
Maha Arkan Khudhair, Rikke Christensen, Anne Skakkebæk, Jakob Grue Graverholt, Anders Bergh Lødrup   +4 more
doaj   +2 more sources

Autosomal recessive polycystic kidney disease: Case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2009
Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death ...
Stevanović Radmila, Glumac Sofija, Trifunović Jovanka, Međo Biljana, Nastasović Tijana, Marković-Lipkovski Jasmina   +5 more
doaj   +3 more sources

Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study [PDF]

Medicina
Background/Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder; it is typically diagnosed in adulthood, but occasionally presents antenatally as very-early onset ADPKD.
Suhra Kim, Ju-hee Yoon, Yun Ji Jung, Hayan Kwon, JoonHo Lee, Ja-Young Kwon, Young-Han Kim   +6 more
doaj   +2 more sources

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child [PDF]

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
doaj   +2 more sources

Prenatal Ultrasound Diagnostics of Autosomal Recessive Polycystic Kidney Disease in Fetus: Clinical Case

Вопросы современной педиатрии, 2022
Background. Autosomal recessive polycystic kidney disease is a rare congenital anomaly with poor prognosis. It characterized by the development of cysts in kidneys parenchyma, secondary dilatation, and hyperplasia of normally formed collecting tube in ...
Nodira M. Normuradova, Mirtalim А. Pardaev   +1 more
doaj   +1 more source

Polycystic Kidney Disease Drug Development: A Conference Report

Kidney Medicine, 2023
Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively ...
Max C. Liebau, Djalila Mekahli, Ronald Perrone, Belle Soyfer, Sorin Fedeles   +4 more
doaj   +1 more source

Autosomal recessive polycystic kidney disease [PDF]

Nephrology Dialysis Transplantation, 1996
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood. With increasing knowledge and improving diagnostic techniques it has become evident that the spectrum of ARPKD is much more variable than was previously thought.
K, Zerres, S, Rudnik-Schöneborn, C, Steinkamm, G, Mücher   +3 more
openaire   +3 more sources

Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy. [PDF]

PLoS ONE, 2015
Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children.
K J Kelly, Jizhong Zhang, Ling Han, Malgorzata Kamocka, Caroline Miller, Vincent H Gattone, Jesus H Dominguez   +6 more
doaj   +1 more source