Results 21 to 30 of about 42,420 (251)

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease [PDF]

Pediatric Nephrology, 2012
Autosomal recessive polycystic kidney disease (ARPKD) shows a great phenotypic variability between patients, ranging from perinatal demise to mildly affected adults. Autosomal dominant polycystic liver disease (PCLD) does not manifest in childhood.A boy was reported with the co-occurrence of ARPKD and PCLD.
Andrea Zingg-Schenk, Jürg H. Caduff, Silvia Azzarello‐Burri, Carsten Bergmann, Joost P.H. Drenth, Thomas J. Neuhaus   +5 more
openalex   +4 more sources

A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease. [PDF]

Am J Kidney Dis
The etiologies of newborn deaths in neonatal intensive care units usually remain unknown, even following genetic testing. Whole-genome sequencing, combined with artificial intelligence-based methods for predicting the effects of non-coding variants ...
Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E.   +24 more
europepmc   +2 more sources

Autosomal recessive polycystic kidney disease diagnosed in fetus

Indian Journal of Urology, 2007
The presence of isolated large and hyperechoic fetal kidneys suggest polycystic kidney disease. The antenatal diagnosis has to be made without doubt as it has serious implications in the continuation of pregnancy, evaluation of family members and genetic counseling for the family. We present the features of autosomal recessive polycystic kidney disease
Joseph Thomas, AP Manjunath, Lavanya Rai, Ranjini Kudva   +3 more
openalex   +5 more sources

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. [PDF]

Sci Rep, 2021
Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1cpk/cpk (cpk) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD).
Yang C, Harafuji N, O'Connor AK, Kesterson RA, Watts JA, Majmundar AJ, Braun DA, Lek M, Laricchia KM, Fathy HM, Mane S, Shril S, Hildebrandt F, Guay-Woodford LM.   +13 more
europepmc   +2 more sources

Contributions of afferent and sympathetic renal nerves to cystogenesis and arterial pressure regulation in a preclinical model of autosomal recessive polycystic kidney disease.

Am J Physiol Renal Physiol, 2022
Polycystic kidney disease (PKD) is the most common inheritable cause of kidney failure, and the underlying mechanisms remain incompletely uncovered. Renal nerves contribute to hypertension and chronic kidney disease - frequent complications of PKD. There
Gauthier MM, Dennis MR, Morales MN, Brooks HL, Banek CT.   +4 more
europepmc   +2 more sources

The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Biochimica et Biophysica Acta (BBA) - 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, Taylor, Richards
openaire   +3 more sources

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. [PDF]

Clin Exp Nephrol, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered.
Ishiko S, Morisada N, Kondo A, Nagai S, Aoto Y, Okada E, Rossanti R, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Kaito H, Hamada R, Shima Y, Nakanishi K, Matsuo M, Iijima K, Nozu K.   +18 more
europepmc   +2 more sources

Autosomal recessive polycystic kidney disease

, 2010
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder involving cystic dilatation of the renal collecting ducts as well as varying degrees of hepatic abnormalities consisting of cysts, fibrosis, and portal hypertension. The ARPKD locus has been mapped to chromosome 6p21 and encodes a novel protein product named fibrocystin or ...
Yahya Baba, The Radswiki
openalex   +3 more sources

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome [PDF]

Italian Journal of Pediatrics, 2020
Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12.
Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D’Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro   +8 more
openalex   +2 more sources

Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies. [PDF]

Kidney Int Rep, 2023
Halawi AA, Burgmaier K, Buescher AK, Dursun I, Erger F, Galiano M, Gessner M, Gökce I, Mekahli D, Mir S, Obrycki L, Shroff R, Stabouli S, Szczepanska M, Teixeira A, Weber LT, Wenzel A, Wühl E, Zachwieja K, Dötsch J, Schaefer F, Liebau MC.   +21 more
europepmc   +2 more sources