Hereditary polycystic kidney disease: genetic diagnosis and counseling.
نویسندگان
چکیده
Description of the eviDence collection methoD The literature review of scientific articles in this guideline was held in the databases Medline, Cochrane and SciELO. The search for evidence came from actual clinical scenarios and used keywords (MeSH terms) grouped in the following syntax: adult dominant polycystic kidney disease; adult recessive polycystic kidney disease; PKD mutation; PKDH1 mutation; renal cystic disease; polycystin; renal ultrassonography; renal transplantation; fibrocystin; congenital hepatic fibrosis; biliary dysgenesis; liver cystic disease; end-stage renal disease; linkage analysis.
منابع مشابه
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
متن کاملFasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...
متن کاملKHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling.
550 a. We recommend that adult patients diagnosed with autosomal dominant polycystic kidney disease are referred to their regional genetics service for genetic counseling if they are interested in and would like to discuss (2B) the following: i. Inheritance pattern and clarifying/communicating disease risk to family members ii. Molecular genetic testing (role, indication, and interpretation) ii...
متن کاملManagement of autosomal dominant polycystic kidney disease
A utosomal dominant polycystic kidney disease (ADPKD) is a genetic condition characterised by the formation of multiple fluid-filled renal cysts and kidney enlargement. Potential complications of ADPKD include adult-onset end-stage kidney disease, early-onset hypertension and nephrolithiasis. ADPKD is also associated with systemic conditions including intracranial cerebral aneurysm and polycyst...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
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ورودعنوان ژورنال:
- Revista da Associacao Medica Brasileira
دوره 60 2 شماره
صفحات -
تاریخ انتشار 2014