Autosomal recessive polycystic kidney disease.

@article{Swanson2021AutosomalRP,
  title={Autosomal recessive polycystic kidney disease.},
  author={Kate Swanson},
  journal={American journal of obstetrics and gynecology},
  year={2021}
}
  • Kate Swanson
  • Published 1 September 2021
  • Medicine
  • American journal of obstetrics and gynecology
View on PubMed
ajog.org

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TLDR
The largest cohort of BBS fetuses is reported, with 74 fetuses with putative BBS diagnosis, and no genotype/phenotype correlation could be established but postaxial polydactyly and renal cysts were the most prevalent symptoms.
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
TLDR
This is the first study that reports the long-term outcome of ARPKD patients with defined PK HD1 mutations, indicating that PKHD1 mutation screening is a powerful diagnostic tool in patients suspected with AR PKD.
[Massive increase of foetal abdominal circumference due to hereditary polycystic kidney disease].
Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition with a poor prognosis. We report on a 30-year-old primagravid woman in the 34th) week of gestation who was admitted to our…
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
TLDR
The results show the presence of two truncating mutations of the PKHD1 gene is associated with the most severe renal forms of prenatally detected autosomal recessive polycystic kidney disease, however, their absence does not guarantee survival to the neonatal period.
Polycystic kidney disease.
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  • Biology, Medicine
    The New England journal of medicine
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TLDR
The clinical importance of polycystic kidney diseases is outlined and the cell biology and molecular mechanisms that cause the formation of hundreds of cystic lesions in the renal parenchyma are discussed.
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
TLDR
The localization of fibrocystin to cilia further strengthens that correlation and indicates that the primary defect in ARPKD may be linked to ciliary dysfunction.
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to…
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases
TLDR
Genotype, sonographic signs of OAH, enlarged kidney size, and pulmonary hypoplasia can be useful predictors of neonatal survival, and a clinical diagnostic algorithm for differentiating cystic kidney diseases is proposed.
Perinatal assessment of hereditary cystic renal diseases: the contribution of sonography
TLDR
All the hereditary cystic diseases are reviewed and a classification is proposed and the various sonographic patterns that can be used to ascertain the diagnosis are reviewed.
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