Results 151 to 160 of about 2,428 (197)

The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2022
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying early on and the majority having good prognosis if they survive the first year of life. The reasons for this variability remain unclear.
Paraskevi Goggolidou
exaly   +3 more sources

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees [PDF]

Kidney International, 2003
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.BackgroundAutosomal-recessive polycystic kidney disease (ARPKD) is an important neonatal nephropathy characterized by fusiform dilation of collecting ...
Roser Torra, Peter C Harris, Eliecer Coto   +2 more
exaly   +2 more sources

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Optimizing outcomes for neonatal ARPKD

Pediatric Transplantation, 2007
Abstract:  A retrospective analysis was conducted on 10 consecutive cases of neonatal ARPKD, 9 of whom received kidney transplants (KT). All were diagnosed antenatally (n = 6) or at birth. In the first month of life 70% required ventilatory support. Pre‐emptive bilateral nephrectomy and peritoneal dialysis (PD) catheter placement were performed in 9 at
Minnie M Sarwal, Oscar Salvatierra
exaly   +3 more sources

Unusual sonographic features of ARPKD

Prenatal Diagnosis, 2006
AbstractThe classic sonographic appearance of the kidneys in fetuses with autosomal recessive polycystic kidney disease (ARPKD) has been well described. We report a case of enlarged kidneys with pyramidal hyperechogenicity quite similar to medullary nephrocalcinosis found in a fetus at 34 weeks' gestation.
Maria, Okumura, Victor, Bunduki, Christina, Shiang, Regina, Schultz, Marcelo, Zugaib   +4 more
openaire   +2 more sources

Autosomal recessive polycystic kidney disease (ARPKD)

Journal of Nephrology, 2003
Abstract Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed. Presentation of ARPKD at a later age and survival into adulthood is well known. Diagnostic criteria, clinical course, differential
Klaus, Zerres, Sabine, Rudnik-Schöneborn, Jan, Senderek, Thomas, Eggermann, Carsten, Bergmann   +4 more
openaire   +2 more sources

Phenocopies of clinically diagnosed ARPKD revealed in children

Pediatric Nephrology, 2021
[No Abstract Available]
Halawi, Abdul, Burgmaier, Kathrin, Buescher, Anja, Dursun, Ismail, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Kowalewska, Claudia, Mekahli, Djalila, Mir, Sevgi, Shroff, Rukshana, Stabouli, Stella, Teixeira, Ana, Weber, Lutz, Wuhl, Elke, Wygoda, Simone, Zachwieja, Katarzyna, Dotsch, Jorg, Schaefer, Franz, Liebau, Max   +19 more
  +6 more sources

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) [PDF]

Kidney International, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).BackgroundARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12.
Jan Senderek, Tomáš Seeman, Carsten Bergmann   +2 more
exaly   +2 more sources

PHENOTYPIC VARIABILITIES IN SIBLINGS WITH ARPKD

2021
[No Abstract Available]
DÜZOVA, ALİ, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Buscher, Anja, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, GÖKCE, İBRAHİM, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfahrt, Julia, Weber, Lutz Thorsten, Wuehl, Elke, Yilmaz, Alev, Doetsch, Joerg, Schaefer, Franz, Liebau, Max Christoph, DURSUN, İSMAİL   +24 more
openaire   +4 more sources

A novel gene therapy for ARPKD based on CFTR

American Journal of Physiology - Renal Physiology
Autosomal recessive polycystic kidney disease (ARPKD) causes severe disease in babies in the womb. Those who survive the neonatal period face chronic kidney and liver disease throughout their life. The overall goal of our study here is to develop a gene therapy to treat ARPKD.
Patricia Outeda, William B Guggino, Liudmila Cebotaru   +2 more
exaly   +3 more sources

Polycystic Kidney Disease: ADPKD and ARPKD

2016
Cystic kidney diseases are among the most common causes of end stage renal disease both in children and adults. The two main forms of genetic cystic kidney disorders are Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease (ADPKD and ARPKD).
Max Christoph Liebau, Carsten Bergmann
openaire   +1 more source