Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis

Jang, Dong Gyu; Chae, Hyojin; Shin, Jong Chul; Park, In Yang; Kim, Myungshin; Kim, Yonggoo

doi:10.1111/j.1447-0756.2011.01594.x

Cited by 10 publications

(4 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A direct piece of evidence that primary cilia may play essential roles in proper kidney development came from studying the inherited kidney developmental disorders such as autosomal recessive polycystic kidney disease (ARPKD) (Deane & Ricardo, ). ARPKD can be diagnosed by the appearance of renal and hepatic cysts, with an incidence of 1 in 20,000 live births (Jang et al, ). Progressive expansion of fluid‐filled cysts results in massive enlargement of the kidneys and often leads to renal failure (Yoder, ).…”

Section: First Indications To the Role Of Cilia In Kidney Organogenesismentioning

confidence: 99%

Antennas of organ morphogenesis: the roles of cilia in vertebrate kidney development

Marra

Wingert

2016

Genesis

View full text Add to dashboard Cite

Cilia arose early during eukaryotic evolution, and their structural components are highly conserved from the simplest protists to complex metazoan species. In recent years, the role of cilia in the ontogeny of vertebrate organs has received increasing attention due to a staggering correlation between human disease and dysfunctional cilia. In particular, the presence of cilia in both the developing and mature kidney has become a deep area of research due to ciliopathies common to the kidney, such as polycystic kidney disease (PKD). Interestingly, mutations in genes encoding proteins that localize to the cilia cause similar cystic phenotypes in kidneys of various vertebrates, suggesting an essential role for cilia in kidney organogenesis and homeostasis as well. Importantly, the genes so far identified in kidney disease have conserved functions across species, whose kidneys include both primary and motile cilia. Here, we aim to provide a comprehensive description of cilia and their role in kidney development, as well as highlight the usefulness of the zebrafish embryonic kidney as a model to further understand the function of cilia in kidney health.

show abstract

Section: First Indications To the Role Of Cilia In Kidney Organogenesismentioning

confidence: 99%

Antennas of organ morphogenesis: the roles of cilia in vertebrate kidney development

Marra

Wingert

2016

Genesis

View full text Add to dashboard Cite

show abstract

“…Although this mutation is defined as a polymorphism ( p -value: 1.0), its pathogenicity is currently classified as undetermined in the database due to an insufficient number of reported related cases. Jang et al reported the only other case, which involved a fetus at 22 weeks of gestation with enlarged kidneys identified via ultrasonographic examination, in which the same heterozygous missense mutation (Lys626Arg) has been verified via PKHD1 mutation analysis in a patient and their father [ 24 ]. We provide a second case in a patient from Asia with liver and renal disease who carried the same paternally inherited missense PKHD1 mutation.…”

Section: Discussionmentioning

confidence: 99%

Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report

Wang

et al. 2017

Diagn Pathol

View full text Add to dashboard Cite

BackgroundAbernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli’s disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli’s disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli’s syndrome. The combination of Abernethy malformation and Caroli’s syndrome has not been reported previously.Case presentationWe present the case of a 23-year-old female who was found to have both type II Abernethy malformation and Caroli’s syndrome. Radiological imaging was performed, including computed tomography with three-dimensional reconstruction and magnetic resonance imaging with (magnetic resonance cholangiopancreatography (MRCP), which revealed a side-to-side portocaval shunt, intrahepatic bile duct dilation, congenital hepatic fibrosis, and renal cysts. In addition, PKHD1 (polycystic kidney and hepatic disease 1) gene mutational analysis revealed a paternally inherited heterozygous missense mutation (c.1877A > G, p.Lys626Arg). A liver biopsy confirmed the pathological features of Caroli’s syndrome.ConclusionsTo our knowledge, this is the first reported case of a patient with both type II Abernethy malformation and Caroli’s syndrome diagnosed using a comprehensive approach that included imaging, mutational analysis, and liver biopsy. Additionally, this is the second reported case to date of an Asian patient presenting with liver and renal disorders with the same paternally inherited PKHD1 missense mutation.

show abstract

“…MRI has also been used for better phenotyping of renal anatomy. MRI will show enlarged kidneys with hyperintense T2-weighted signals in ARPKD cases [11]. MRI may be more sensitive than ultrasound in differentiating between the cysts, normal parenchyma, and fibrosis, although higher cost limits its use in prenatal imaging.…”

Section: Discussionmentioning

confidence: 99%

Novel Mutation in thePKHD1Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Thakur

Speer

Rajkovic

2014

Case Reports in Genetics

View full text Add to dashboard Cite

We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid index. Follow-up ultrasound at 23 weeks and 5 days revealed persistently enlarged, hyperechoic fetal kidneys. Progressive oligohydramnios was not evident until 29 weeks of gestation, with anhydramnios noted by 35 weeks of gestation. Amniocentesis was performed for karyotype and to search for mutations in the PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.

show abstract

Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis

Cited by 10 publications

References 10 publications

Antennas of organ morphogenesis: the roles of cilia in vertebrate kidney development

Antennas of organ morphogenesis: the roles of cilia in vertebrate kidney development

Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report

Novel Mutation in thePKHD1Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Contact Info

Product

Resources

About