Erbliche Zystennierenerkrankungen: Autosomal-dominante und autosomal-rezessive polyzystische Nierenerkrankung (ADPKD und ARPKD)
نویسندگان
چکیده
منابع مشابه
[Autosomal recessive polycystic kidney disease (ARPKD)].
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 diagnoses, genetics and molecular biology will be discussed along wit...
متن کاملHypertension in autosomal-dominant polycystic kidney disease (ADPKD)
Cardiovascular (CV) complications are the major cause of death in autosomal-dominant polycystic kidney disease (ADPKD) patients. Hypertension is common in these patients even before the onset of renal insufficiency. Blood pressure (BP) elevation is a key factor in patient outcome, mainly owing to the high prevalence of target organ damage together with a poor renal prognosis when BP is increase...
متن کاملUltrasonography Lesson Renal cystic disease (ADPKD and ARPKD)
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and is often encountered in the work-up of renal patients. The diagnosis is obvious in advanced stages, but may be very difficult in young individuals in whom the need to provide a correct diagnosis is particularly pressing. By ultrasonography cysts are round or oval, echolucent, thin-walled, clea...
متن کاملMulti-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
BACKGROUND Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations. OBJECTIVE To test the hypothesi...
متن کاملActivation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD).
BACKGROUND Autosomal recessive polycystic kidney disease (ARPKD) [MIM 263200] belongs to a group of congenital hepatorenal fibrocystic syndromes and is caused by mutations in the PKHD1 gene encoding the multidomain protein fibrocystin/polyductin (FPC). The serine-threonine kinase mammalian target of rapamycin (mTOR) is one of the most important gate-keepers integrating numerous signals related ...
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ژورنال
عنوان ژورنال: medizinische genetik
سال: 2018
ISSN: 0936-5931,1863-5490
DOI: 10.1007/s11825-018-0224-0