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ALLMedicine™ Autosomal Recessive Polycystic Kidney Disease Center

Research & Reviews  123 results

Infant presenting with pyloric stenosis and autosomal recessive polycystic kidney disea...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8137240
BMJ Case Reports; Nuzum TA, Cohen IT et. al.

May 21st, 2021 - This case report describes a premature male infant born after a pregnancy complicated by oligohydramnios of unknown aetiology but otherwise unremarkable prenatal scans. He had sudden onset of projectile emesis and severe hypertension in the third ...

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polyc...
https://doi.org/10.1016/j.kint.2021.04.019
Kidney International; Burgmaier K, Brinker L et. al.

May 4th, 2021 - Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the ...

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney dis...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8042699
BMC Pregnancy and Childbirth; Yao X, Ao W et. al.

Apr 14th, 2021 - Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention ...

Early clinical management of autosomal recessive polycystic kidney disease.
https://doi.org/10.1007/s00467-021-04970-8 10.1542/peds.2013-3646 10.1038/s41572-018-0047-y 10.1002/humu.20145 10.1542/peds.111.5.1072 10.3389/fped.2017.00080 10.1001/jamapediatrics.2017.3938 10.1111/j.1523-1755.2005.00148.x 10.2215/CJN.07141009 10.1016/j.jpeds.2018.03.052 10.1053/j.gastro.2012.09.056 10.1111/tri.12098 10.1053/j.ajkd.2016.06.019 10.1007/s00467-013-2487-7 10.1038/ki.2009.440 10.1038/s41598-019-43488-w 10.1097/MOP.0000000000000196 10.1111/j.1651-2227.1996.tb14056.x 10.1086/340448 10.1038/ng833 10.1038/ng.3871 10.1083/jcb.200910096 10.1093/hmg/ddg274 10.1111/j.1523-1755.2004.00844.x 10.1681/ASN.2010101080 10.1093/hmg/ddm141 10.1097/01.ASN.0000078805.87038.05 10.1007/s00439-005-0027-7 10.1016/j.ymgme.2009.10.010 10.1002/humu.20029 10.1007/s00467-017-3648-x 10.2215/CJN.00920114 10.1111/j.1399-0004.1995.tb04305.x 10.1097/01.md.0000200165.90373.9a 10.1186/s12882-015-0002-z 10.1093/humrep/deh579 10.1016/s1472-6483(10)60569-x 10.3389/fped.2017.00221 10.1002/uog.3856 10.1016/j.ejmg.2005.02.003 10.1007/s00467-018-4188-8 10.1007/s00467-015-3140-4 10.1016/S0022-3476(87)80244-5 10.1038/ki.2013.561 10.1542/peds.2015-0980 10.1053/j.ajkd.2019.10.009 10.1016/S0022-3476(95)70318-7 10.1097/01.ju.0000142025.80132.2f 10.1111/j.1399-3046.2006.00644.x 10.1007/s004670100599 10.18295/squmj.2016.16.04.018 10.1007/s00467-012-2311-9 10.1007/s00467-013-2747-6 10.1038/s41598-020-71956-1 10.1007/s00467-010-1621-z 10.1369/jhc.4A6494.2005 10.1056/NEJMoa0902066 10.1007/s00467-020-04623-2 10.1097/MPG.0000000000000501 10.3389/fped.2018.00164 10.3389/fped.2016.00082
Pediatric Nephrology (Berlin, Germany); Liebau MC

Feb 18th, 2021 - Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes wi...

Polycystic liver disease genes: Practical considerations for genetic testing.
https://doi.org/10.1016/j.ejmg.2021.104160
European Journal of Medical Genetics; Boerrigter MM, Bongers EMHF et. al.

Feb 9th, 2021 - The development of a polycystic liver is a characteristic of the monogenic disorders: autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADP...

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