ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies
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...
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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 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 کاملRenal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort.
BACKGROUND Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by gradual renal enlargement and cyst growth prior to loss of renal function. Standard radiographic imaging has not provided the resolution and accuracy necessary to detect small changes in renal volume or to reliably measure renal cyst volumes. The Consortium for Radiologic Imaging Studies in Polycystic Kidney Dis...
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...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 2014
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s00467-013-2706-2