Abstract:
BACKGROUND:ADPKD is one of the most common inherited disorders, with high risk for end-stage renal disease. Numerous patients, however, have no relatives in whom this disorder is known and are unsure whether they may transmit the disease to their offsprings. The aim of this study was to evaluate whether germline mutation analysis adds substantial information to clinical symptoms for diagnosis of ADPKD in these patients. METHODS:Clinical data included renal function and presence of liver or pancreas cysts, heart valve insufficiency, intracranial aneurysms, colonic diverticles, and abdominal hernias. Family history was evaluated regarding ADPKD. Germline mutation screening of the PKD1 and PKD2 genes was performed for intragenic mutations and for large deletions. RESULTS:A total of 324 adult patients with ADPKD including 30 patients without a family history of ADPKD (sporadic cases) were included. PKD1 mutations were found in 24/30 and PKD2 mutations in 6 patients. Liver cysts were present in 14 patients and intracranial aneurysms in 2 patients. Fourteen patients (45%) had no extrarenal involvement. Compared to the 294 patients with familial ADPKD, the clinical characteristics and the age at the start of dialysis were similar in those with sporadic ADPKD. CONCLUSION:The clinical characteristics of patients with sporadic and familial ADPKD are similar, but sporadic ADPKD is often overlooked because of the absence of a family history. Molecular genetic screening for germline mutations in both PKD1 and PKD2 genes is essential for the definitive diagnosis of ADPKD.
journal_name
Int Urol Nephroljournal_title
International urology and nephrologyauthors
Neumann HP,Bacher J,Nabulsi Z,Ortiz Brüchle N,Hoffmann MM,Schaeffner E,Nürnberger J,Cybulla M,Wilpert J,Riegler P,Corradini R,Kraemer-Guth A,Azurmendi P,Nunez M,Gläsker S,Zerres K,Jilg Cdoi
10.1007/s11255-012-0125-0subject
Has Abstractpub_date
2012-12-01 00:00:00pages
1753-62issue
6eissn
0301-1623issn
1573-2584journal_volume
44pub_type
杂志文章abstract:BACKGROUND:The aim of the study was to evaluate the impact of magnesium (Mg) on the evolution of arterial calcifications in hemodialysis patients. PATIENTS AND METHODS:Seventy-two stable hemodialysis patients were randomly allocated to two groups: 36 administered a regimen containing magnesium carbonate plus calcium a...
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