21/66. The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice.The science of genetics is able to provide clinicians with early information on the inheritance of autosomal dominant polycystic kidney disease (ADPKD). It is also possible that nephrology clinicians will be able to promote early patient education and provide interventions to improve patient care. Mutations in PKD1 and PKD2 genes account for the majority of ADPKD. ADPKD is one of the most common genetic diseases in humans, crossing all ethnic populations worldwide with an occurrence of one in 500 to one in 1,000 (Igarashi and Somlo, 2002). Individuals with ADPKD, generally in their third and fourth decade, will clinically manifest the initial stages of renal insufficiency such as back pain, urinary tract infections, systemic hypertension and urolithiasis. Although the mechanisms of inheritance are well-described in many medical journals, disease onset, expression and severity are variable. The variable nature of ADPKD suggests that education is vital in helping ADPKD patients make informed decisions on their health and future.- - - - - - - - - - ranking = 1keywords = gene (Clic here for more details about this article) |
22/66. Autosomal dominant polycystic kidney disease presenting as subarachnoid hemorrhage.Intracranial aneurysms occur in patients with autosomal dominant polycystic kidney disease (ADPKD) approximately five times more often than in the general population, and in the same patient group, subarachnoid hemorrhage from rupture of aneurysms occurs about a decade earlier than in the general population. We present a case of unsuspected ADPKD presenting as spontaneous subarachnoid hemorrhage from a ruptured intracranial aneurysm.- - - - - - - - - - ranking = 0.25keywords = gene (Clic here for more details about this article) |
23/66. Polycystic kidney disease and infertility: case report and literature review.adult polycystic kidney disease (APKD) is a frequent disease (1/1000) responsible for about 10% of chronic renal failure. It is an autosomic dominant disease due to mutation of one out of three genes: PKD1 (on the 16th chromosome), PKD2 (on the 4th chromosome) and PKD3 (still unmapped). In the past APKD diagnosis was normally done in fourteen-fifteen years old subjects who have completed their reproductive program. However frequently today, after renal ultrasound introduction, the APKD diagnosis is made during reproductive life. There are several reports of APKD-related infertility in male subjects. The frequency of this association appeared significantly higher than expected by chance alone in a recent observation. So a possible causal relation between APKD and male infertility may exists. Several pathogenetic mechanisms may be responsible of such an association. We recently observed an infertile couple with long standing infertility due to criptozoospermia (<1 x 10(6) spermatozoa/ml) and necrospermia (100% of died spermatozoa at eosin test) in an APKD affected patient. Endocrine tests showed normal testosterone and FSH levels. A TESA-ICSI was done with two embryos development after fertilization of two oocytes (fertilization rate: 25%). At the 14th day after pick up beta-HCG determination showed 72 mUI/ml. A male baby was born at 40th week of pregnancy. Prenatal morphological ultrasound excluded polycystic kidney.- - - - - - - - - - ranking = 0.25keywords = gene (Clic here for more details about this article) |
24/66. Familial hypertensive intracerebral hemorrhage and autosomal dominant polycystic kidney disease.Autosomal dominant polycystic kidney disease (ADPKD) is a generalized disease known to be associated with intracranial aneurysms. Non-aneurysmal intracerebral hemorrhage (ICH) has also been reported in ADPKD. We report a familial clustering of ICH and symptomatic ADPKD. This pedigree had at least six affected family members who suffered from ADPKD, hypertension and non-aneurysmal ICH. The proband demonstrated ADPKD, hypertension and cerebral hemorrhage. To our knowledge, this is the first report of familial ICH in ADPKD, which may have underlying genetic and environmental etiologies.- - - - - - - - - - ranking = 0.25keywords = gene (Clic here for more details about this article) |
25/66. Autosomal dominant polycystic kidney disease in pregnancy complicated by twin gestation and severe preeclampsia: a case report.BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), an autosomal dominant genetic disorder with a reported prevalence of 1 in 1,000, may be associated with hypertensive disease in pregnancy. The evaluation of a pregnant woman with an adult-onset genetic disorder is complex and involves counseling about inheritance, prenatal diagnosis and management of the current pregnancy. CASE: A 33-year-old woman presented for obstetric care with a history of hypertension and ADPKD for 6 years. The patient had secondary infertility, which was treated by in vitro fertilization. The case was complicated by twin gestation and superimposed severe preeclampsia, leading to preterm cesarean delivery at 26 weeks' estimated gestational age. CONCLUSION: Because of the heritable nature of ADPKD and the long-term risk of end-stage renal disease requiring dialysis and/or renal transplantation, the evaluation and counseling of women with ADPKD who are pregnant or considering pregnancy should include a discussion of the modes of inheritance, natural history, available prenatal diagnostic options, and pregnancy risks and management options. Specific counseling issues in this case include the genetic concepts of variable expression and penetrance and the medical management of chronic hypertension and preeclampsia.- - - - - - - - - - ranking = 0.375keywords = gene (Clic here for more details about this article) |
26/66. Intraductal papillary mucinous tumor of the pancreas associated with autosomal dominant polycystic kidney disease.A 43-year-old male with a history of autosomal dominant polycystic kidney disease (ADPKD) was admitted to our center with severe abdominal pain and was diagnosed with acute pancreatitis. CT showed multiple cysts in the liver and both kidneys along with ADPKD and a cystic mass, 4 cm in diameter, in the pancreatic head. The main pancreatic duct was dilated to 1 cm in diameter. The patient was diagnosed with acute pancreatitis due to intraductal papillary mucinous tumor (IPMT), and pancreatoduodenectomy was performed. Histologic examination revealed a multiloculated cystic tumor filled with mucin in the head of the pancreas. Microscopically, the tumor was diagnosed as adenocarcinoma and was found to have invaded the main pancreatic duct. Although, in addition to our case, only seven cases with association between ADPKD and malignant neoplasms have been reported, five of these cases had neoplasms arising from the pancreas. Therefore, we suggest that some genetic interactions may exist between ADPKD and pancreatic carcinogenesis.- - - - - - - - - - ranking = 0.25keywords = gene (Clic here for more details about this article) |
27/66. multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings in these patients include renal hypoplasia, renal insufficiency, vesicoureteric reflux, and optic disc coloboma. A family with a novel heterozygous 10-bp deletion in exon 2 of the PAX2 gene leading to a truncating mutation and variable phenotype across three generations is reported. The first presentation of multicystic dysplastic kidney in this syndrome is reported. The possibility that abnormal PAX2 protein in this case may cause a dominant negative effect also is discussed. The finding of multicystic dysplastic kidney in renal coloboma syndrome could suggest that PAX2 may play a role in early ureteric obstruction and subsequent renal maldevelopment.- - - - - - - - - - ranking = 0.375keywords = gene (Clic here for more details about this article) |
28/66. Multiple cysts in the liver autosomal dominant polycystic liver disease.A 45-year-old woman was admitted because of abdominal pain and a feeling of fullness. Ultrasound and CT scan of the abdomen showed a massively enlarged liver with hundreds of cysts and displacement of the right kidney. There were no cysts in the kidneys. Because several members of her family also had multiple cysts in the liver, the diagnosis of autosomal dominant polycystic liver disease (PCLD) was made. Genetic analysis demonstrated a protein kinase c substrate 80 K-H (PR KCSH) gene mutation (1338-2A>G) and confirmed the clinical diagnosis. A brief review of the genetics and possible treatments is given.- - - - - - - - - - ranking = 0.25keywords = gene (Clic here for more details about this article) |
29/66. Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.Sixty-eight individuals from six Italian families in which autosomal dominant polycystic kidney disease (ADPKD) is segregating, were typed in dna polymorphisms linked to the PKD1 locus on chromosome 16. A total of ten probes were used: 3' HVR, HMJ1, EKMDA, GGG1, 26-6, VK5B, 218EP6, 24.1, CRI090, and 41.1. Zmax was 4.502 at theta = 0.082 between ADPKD and 3'HVR, and 4.382, 1.947, and 1.576 between ADPKD and GGG1, 26.6, and 218EP6, respectively, at theta = 0.0. No clear evidence of genetic heterogeneity was found. Multipoint analyses were consistent with linkage to PKD1. Twenty-nine diagnoses and 16 exclusions made by ultrasonography were confirmed by genotype determinations; in two clinically uncertain cases, dna analysis predicted one individual as being affected and the other unaffected.- - - - - - - - - - ranking = 1.25keywords = gene (Clic here for more details about this article) |
30/66. Autosomal dominant polycystic kidney disease--in vitro culture of cyst-lining epithelial cells.The major form of autosomal dominant polycystic kidney disease (ADPKD) in humans is linked to the PKD1 gene on chromosome 16p. The identity of the gene and the underlying pathogenetic mechanisms are not yet defined. Cyst-lining epithelial cells derived from a polycystic kidney were successfully grown in culture and designated MZ-PKD-1 cells. By linkage analysis, the related pedigree of the nephrectomized patient could be linked to the PKD1 gene on chromosome 16p. Thus, these cells exhibit the genotype of a mutated PKD1 gene and represent an in vitro culture model for ADPKD involving chromosome 16p. The antigenic phenotype was characterized immunohistologically by epithelial differentiation antigens and markers of individual nephron segments. An essentially identical antigenic pattern of proximal tubular cells was observed both in vitro and in fresh frozen tissue. Electron microscopy showed the formation of a microvillous-like coating. During growth phases in vitro successive changes in the cell shape were observed. MZ-PKD-1 cells exhibited a limited lifespan ending in replicative senescence. Northern blot analysis of kidney-growth-related genes, c-myc, TGF-alpha, TGF-beta 1, and EGF receptor revealed abundant expression of all of these genes in MZ-PKD-1 cells.- - - - - - - - - - ranking = 0.875keywords = gene (Clic here for more details about this article) |
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