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1.
CVIR Endovasc ; 7(1): 47, 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38753113

RESUMO

PURPOSE: The aim was to characterize the framework conditions in academic interventional radiology (IR) in Germany with focus on differences between genders. MATERIALS AND METHODS: After IRB approval, all members of The German Society for Interventional Radiology and Minimally Invasive Therapy (n = 1,632) were invited to an online survey on work and research. Statistical comparisons were undertaken with the Fisher's exact test, Wilcoxon rank sum test or Pearson's Chi-squared test. RESULTS: From 267 available questionnaires (general response rate 16.4%), 200 were fully completed. 40% of these (78/200) were involved in research (71% men vs. 29% women, p < 0.01) and eligible for further analysis. Of these, 6% worked part-time (2% vs. 17%, p < 0.05). 90% of the respondents spent less than 25% of their research during their paid working hours, and 41% performed more than 75% of their research during. leisure time. 28% received exemption for research. 88% were (rather) satisfied with their career. One in two participants successfully applied for funding, with higher success rates among male applicants (90% vs. 75%) and respondents with protected research time (93% vs. 80%). Compared to men, women rated their entrance in research as harder (p < 0.05), their research career as more important (p < 0.05), felt less noticed at congresses (93% vs. 53%, p < 0.01), less confident (98% vs. 71%, p < 0.01), and not well connected (77% vs. 36%, p < 0.01).  CONCLUSION: Women and men did research under the same circumstances; however, women were underrepresented. Future programs should generally focus on protected research time and gather female mentors to advance academic IR in Germany.

2.
Cancers (Basel) ; 16(7)2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38610957

RESUMO

PURPOSE: Evaluation of the influence of intrinsic and extrinsic conditions on ablation zone volumes (AZV) after microwave ablation (MWA). METHODS: Retrospective analysis of 38 MWAs of therapy-naïve liver tumours performed with the NeuWave PR probe. Ablations were performed either in the 'standard mode' (65 W, 10 min) or in the 'surgical mode' (95 W, 1 min, then 65 W, 10 min). AZV measurements were obtained from contrast-enhanced computed tomography immediately post-ablation. RESULTS: AZVs in the 'standard mode' were smaller than predicted by the manufacturer (length 3.6 ± 0.6 cm, 23% below 4.7 cm; width 2.7 ± 0.6, 23% below 3.5 cm). Ablation zone past the tip was limited to 6 mm in 28/32 ablations. Differences in AZV between the 'surgical mode' and 'standard mode' were not significant (15.6 ± 7.8 mL vs. 13.9 ± 8.8 mL, p = 0.6). AZVs were significantly larger in case of hepatocellular carcinomas (HCCs) (n = 19) compared to metastasis (n = 19; 17.8 ± 9.9 mL vs. 10.1 ± 5.1 mL, p = 0.01) and in non-perivascular tumour location (n = 14) compared to perivascular location (n = 24, 18.7 ± 10.4 mL vs. 11.7 ± 6.1 mL, p = 0.012), with both factors remaining significant in two-way analysis of variance (HCC vs. metastasis: p = 0.02; perivascular vs. non-perivascular tumour location: p = 0.044). CONCLUSION: Larger AZVs can be expected in cases of HCCs compared with metastases and in non-perivascular locations. Using the 'surgical mode' does not increase AZV significantly.

3.
Ear Nose Throat J ; 101(5): NP218-NP221, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32951455

RESUMO

Leiomyosarcoma (LMS) in the sinonasal tract (SNT) is a rarity that has been firstly described in 1958. Since then, there have been only a few articles about this entity. Most of the data available about LMS in the SNT is derived from case reports. We believe that our case will support the data set and help guiding the management of this rare condition. A 84-year-old female presented with nasal airway obstruction on the left side. She experienced several episodes of epistaxis from her left nostril, what made her to seek medical care. A rhinoscopy revealed an obstructing mass in the left nasal cavity. Computed tomography (CT) scan of the paranasal sinuses revealed a homogenous mass occupying the left nasal cavity, bone destruction of the left middle, and inferior nasal turbinates. An infiltration of the left nasolacrimal duct was also present. The patient refused to undergo open surgery and the mass was removed during an endoscopic approach. The histopathological analysis combined with immunohistochemistry was consistent with LMS. The resection margins were positive for tumor cells. A staging with CT-neck-thorax, abdomen ultrasound, and MRI of the head ruled out metastases. She underwent a second endoscopic tumor resection surgery with positive resection margins and obtained adjuvant radiotherapy. On 9 months of follow-up, there was no recurrence or metastases.


Assuntos
Leiomiossarcoma , Seios Paranasais , Idoso de 80 Anos ou mais , Feminino , Humanos , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/patologia , Leiomiossarcoma/cirurgia , Margens de Excisão , Cavidade Nasal/diagnóstico por imagem , Cavidade Nasal/patologia , Seios Paranasais/patologia , Conchas Nasais/patologia
4.
Rofo ; 194(4): 384-390, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34649288

RESUMO

PURPOSE: Lymphoceles often occur within several weeks or even months after surgery. Mostly asymptomatic and therefore undiagnosed, they may be self-healing without any treatment. A small percentage of postoperative lymphoceles are symptomatic with significant pain, infection, or compression of vital structures, thus requiring intervention. Many different treatment options are described in the literature, like drainage with or without sclerotherapy, embolization of lymph vessels, and surgical approaches with laparoscopy or laparotomy. Inspired by reports stating that postoperative suction drainage can prevent the formation of lymphoceles, we developed a simple protocol for vacuum-assisted drainage of symptomatic lymphoceles, which proved to be successful and which we would therefore like to present. MATERIALS AND METHOD: Between 2008 and 2020, 35 patients with symptomatic postoperative lymphoceles were treated with vacuum-assisted suction drainage (in total 39 lymphoceles). The surgery that caused lymphocele formation had been performed between 8 and 572 days before. All lymphoceles were diagnosed based on biochemical and cytologic findings in aspirated fluid. The clinical and imaging data were collected and retrospectively analyzed. RESULTS: In total, 43 suction drainage catheters were inserted under CT guidance. The technical success rate was 100 %. One patient died of severe preexisting pulmonary embolism, sepsis, and poor conditions (non-procedure-related death). In 94.8 % of symptomatic lymphoceles, healing and total disappearance could be achieved. 4 lymphoceles had a relapse or dislocation of the drainage catheter and needed a second drainage procedure. Two lymphoceles needed further surgery. The complication rate of the procedure was 4.6 % (2/43, minor complications). The median indwelling time of a suction drainage catheter was 8-9 days (range: 1-30 days). CONCLUSION: The positive effects of negative pressure therapy in local wound therapy have been investigated for a long time. These positive effects also seem to have an impact on suction drainage of symptomatic lymphoceles with a high cure rate. KEY POINTS: · Suction drainage of lymphoceles is an easy and successful method to cure symptomatic lymphoceles at various locations.. · We believe this to be due to the induction of cavity collapse and surface adherence.. · In most cases rapid clinical improvement could be obtained.. CITATION FORMAT: · Franke M, Saager C, Kröger J et al. Vacuum-Assisted Suction Drainage as a Successful Treatment Option for Postoperative Symptomatic Lymphoceles. Fortschr Röntgenstr 2022; 194: 384 - 390.


Assuntos
Linfocele , Drenagem/métodos , Humanos , Linfocele/diagnóstico por imagem , Linfocele/etiologia , Linfocele/terapia , Recidiva Local de Neoplasia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/terapia , Estudos Retrospectivos , Sucção/métodos
7.
Radiol Res Pract ; 2020: 5710313, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32884844

RESUMO

Today, there are still no uniform guidelines for the treatment of epistaxis. Furthermore, it is widely debated whether embolization or surgical approaches should be the first choice of treatment for intractable posterior epistaxis after conservative measures have failed. In several meta-analyses, it is reported that endoscopic sphenopalatine artery ligation and embolization have similar success rates, but embolization was associated with more severe neurological complications. Regarding existing literature, there are many comparative analyses of surgical methods but none for embolization protocols. Against this backdrop of a lack of uniform standards in embolization techniques, we present a retrospective evaluation of what has emerged to be best procedural practice for endovascular treatment of epistaxis in our department using microsphere particles and microcoils, in particular regarding precaution measures to avoid neurological complications. In our retrospective data analysis of 141 procedures in 123 patients, performed between 2008 and 2019, we find success rates very similar to those reported in other studies (95.1% immediate-stop-of-bleeding success and 90.2% overall embolization success) but did not encounter any major neurological complication opposed to other reports. We suggest some aspects of our protocol as precaution measure to avoid neurological complications. More generally and perhaps even more importantly, we make a strong case for standardization for embolization techniques to the level of details in surgical procedure standardization to enable an apples to apples comparison of embolization techniques to each other and of intervention vs. surgery.

12.
Exp Mol Med ; 50(6): 1-17, 2018 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-29959317

RESUMO

Ciliopathies comprise a large number of hereditary human diseases and syndromes caused by mutations resulting in dysfunction of either primary or motile cilia. Both types of cilia share a similar architecture. While primary cilia are present on most cell types, expression of motile cilia is limited to specialized tissues utilizing ciliary motility. We characterized protein complexes of ciliopathy proteins and identified the conserved AAA-ATPase Ruvbl1 as a common novel component. Here, we demonstrate that Ruvbl1 is crucial for the development and maintenance of renal tubular epithelium in mice: both constitutive and inducible deletion in tubular epithelial cells result in renal failure with tubular dilatations and fewer ciliated cells. Moreover, inducible deletion of Ruvbl1 in cells carrying motile cilia results in hydrocephalus, suggesting functional relevance in both primary and motile cilia. Cilia of Ruvbl1-negative cells lack crucial proteins, consistent with the concept of Ruvbl1-dependent cytoplasmic pre-assembly of ciliary protein complexes.


Assuntos
ATPases Associadas a Diversas Atividades Celulares/deficiência , Ciliopatias , DNA Helicases/deficiência , Deleção de Genes , Hidrocefalia , Nefropatias , Animais , Cílios/genética , Cílios/metabolismo , Ciliopatias/genética , Ciliopatias/metabolismo , Ciliopatias/patologia , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Hidrocefalia/genética , Hidrocefalia/metabolismo , Hidrocefalia/patologia , Nefropatias/genética , Nefropatias/metabolismo , Nefropatias/patologia , Túbulos Renais/metabolismo , Túbulos Renais/patologia , Camundongos , Camundongos Transgênicos
13.
Kidney Int ; 92(6): 1544-1554, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28754558

RESUMO

Polycystic kidney disease (PKD) is among the leading causes of end-stage renal disease. Increasing evidence exists that molecular therapeutic strategies targeted to cyst formation and growth might be more efficacious in early disease stages, highlighting the growing need for sensitive biomarkers. Here we apply quantitative magnetic resonance imaging techniques of T2 mapping and diffusion-weighted imaging in the jck mouse model for PKD using a clinical 3.0 T scanner. We tested whether kidney T2 values and the apparent diffusion coefficient (ADC) are superior to anatomical imaging parameters in the detection of early cystogenesis, as shown on macro- and histopathology. We also tested whether kidney T2 values and ADC have the potential to monitor early treatment effects of therapy with the V2 receptor antagonist Mozavaptane. Kidney T2 values and to a lesser degree ADC were found to be highly sensitive markers of early cystogenesis and superior to anatomical-based imaging parameters. Furthermore, kidney T2 values exhibited a nearly perfect correlation to the histological cystic index, allowing a clear separation of the two mouse genotypes. Additionally, kidney T2 values and ADC were able to monitor early treatment effects in the jck mouse model in a proof-of-principle experiment. Thus, given the superiority of kidney T2 values and ADC over anatomical-based imaging in mice, further studies are needed to evaluate the translational impact of these techniques in patients with PKD.


Assuntos
Antagonistas dos Receptores de Hormônios Antidiuréticos/uso terapêutico , Benzazepinas/uso terapêutico , Cistos/diagnóstico por imagem , Rim/diagnóstico por imagem , Doenças Renais Policísticas/diagnóstico por imagem , Adulto , Animais , Cistos/tratamento farmacológico , Cistos/genética , Cistos/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Modelos Animais de Doenças , Diagnóstico Precoce , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Rim/patologia , Estudos Longitudinais , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Terapia de Alvo Molecular/métodos , Mutação , Quinases Relacionadas a NIMA/genética , Doenças Renais Policísticas/tratamento farmacológico , Doenças Renais Policísticas/genética , Doenças Renais Policísticas/patologia , Estudo de Prova de Conceito , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
14.
BMC Med Genet ; 18(1): 53, 2017 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-28499369

RESUMO

BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma. Furthermore, both tumor DNA and DNA from a metastasis are analyzed regarding this mutation. The pathogenic effect of the sequence alteration is confirmed by minigene assays and the biochemical consequences on the protein are examined using TALEN-mediated transgenesis in cultured cells. RESULTS: Here we describe an FLCN mutation in a 55-year-old patient who presented himself with progressive weight loss, bilateral kidney cysts and renal tumors. He and members of his family had a history of recurrent pneumothorax during the last few decades. Histology after tumor nephrectomy showed a mixed kidney cancer consisting of elements of a chromophobe renal cell carcinoma and dedifferentiated small cell carcinoma component. Subsequent FLCN sequencing identified an intronic c.1177-5_-3delCTC alteration that most likely affected the correct splicing of exon 11 of the FLCN gene. We demonstrate skipping of exon 11 to be the consequence of this mutation leading to a shift in the reading frame and the insertion of a premature stop codon. Interestingly, the truncated protein was still expressed both in cell culture and in tumor tissue, though it was strongly destabilized and its subcellular localization differed from wild-type FLCN. Both, altered protein stability and subcellular localization could be partly reversed by blocking proteasomal and lysosomal degradation. CONCLUSIONS: Identification of disease-causing mutations in BHD syndrome requires the analysis of intronic sequences. However, biochemical validation of the consecutive alterations of the resulting protein is especially important in these cases. Functional characterization of the disease-causing mutations in BHD syndrome may guide further research for the development of novel diagnostic and therapeutic strategies.


Assuntos
Carcinoma de Células Renais/genética , Genes Supressores de Tumor , Neoplasias Renais/genética , Mutação , Proteínas Proto-Oncogênicas/genética , Splicing de RNA , Proteínas Supressoras de Tumor/genética , Carcinoma de Células Renais/diagnóstico por imagem , Humanos , Neoplasias Renais/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
15.
Transplantation ; 100(6): 1270-7, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26356175

RESUMO

BACKGROUND: Transplant centers commonly evaluate split renal function (SRF) with Tc-99m-mercapto-acetyltriglycin (MAG3) scintigraphy in living kidney donation. Alternatively, the kidney volume can be measured based on predonation CT scans. The aim of this study was to identify the most accurate CT volumetry technique for SRF and the prediction of postdonation kidney function (PDKF). METHODS: Three CT volumetry techniques (modified ellipsoid volume [MELV], smart region of interest [ROI] volume, renal cortex volume [RCV]) were performed in 101 living kidney donors. Preoperation CT volumetric SRF was determined and compared with MAG3-SRF, postoperation donor kidney function, and graft function. RESULTS: The correlation between donors predonation total kidney volume and predonation kidney function was the highest for RCV (0.58 with creatine clearance, 0.54 with estimated glomerular filtration rate-Cockcroft-Gault). The predonation volume of the preserved kidney was (ROI, MELV, RCV) 148.0 ± 29.1 cm, 151.2 ± 35.4 and 93.9 ± 25.2 (P < 0.005 MELV vs RCV and ROI vs RCV). Bland-Altman analysis showed agreement between CT volumetry SRF and MAG3-SRF (bias, 95% limits of agreement: ROI vs MAG3 0.4%, -7.7% to 8.6%; MELV vs MAG3 0.4%, -8.9% to 9.7%; RCV vs MAG3 0.8%, -9.1% to 10.7%). The correlation between predonation CT volumetric SRF of the preserved kidney and PDKF at day 3 was r = 0.85 to 0.88, between MAG3-SRF and PDKF (r = 0.84). The difference of predonation SRF between preserved and donated kidney was the lowest for ROI and RCV (median, 3% and 4%; 95th percentile, 9% and 13%). CONCLUSIONS: Overall renal cortex volumetry seems to be the most accurate technique for the evaluation of predonation SRF and allows a reliable prediction of donor's PDKF.


Assuntos
Falência Renal Crônica/cirurgia , Transplante de Rim , Rim/diagnóstico por imagem , Rim/fisiopatologia , Doadores Vivos , Adulto , Creatinina/sangue , Registros Eletrônicos de Saúde , Feminino , Taxa de Filtração Glomerular , Sobrevivência de Enxerto , Humanos , Rim/fisiologia , Córtex Renal/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Nefrectomia , Tamanho do Órgão , Período Pós-Operatório , Estudos Retrospectivos , Fatores de Tempo , Coleta de Tecidos e Órgãos , Tomografia Computadorizada por Raios X
16.
Patient Prefer Adherence ; 9: 943-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26185424

RESUMO

OBJECTIVE: The aim of the study reported here was to evaluate patients' satisfaction with implantation of venous access devices under local anesthesia (LA) with and without additional oral sedation. MATERIALS AND METHODS: A total of 77 patients were enrolled in the prospective descriptive study over a period of 6 months. Subcutaneous implantable venous access devices through the subclavian vein were routinely implanted under LA. Patients were offered an additional oral sedative (lorazepam) before each procedure. The level of anxiety/tension, the intensity of pain, and patients' satisfaction were evaluated before and immediately after the procedure using a visual analog scale (ranging from 0 to 10) with a standardized questionnaire. RESULTS: Patients' satisfaction with the procedure was high (mean: 1.3±2.0) with no significant difference between the group with premedication and the group with LA alone (P=0.54). However, seven out of 30 patients (23.3%) in the group that received premedication would not undergo the same procedure without general anesthesia. There was no significant influence of lorazepam on the intensity of pain (P=0.88). In 12 out of 30 patients (40%) in the premedication group, the level of tension was higher than 5 on the visual analog scale during the procedure. In 21 out of 77 patients (27.3%), the estimate of the level of tension differed between the interventionist and the patient by 3 or more points in 21 out of 77 patients (27.3%). CONCLUSION: Overall patient satisfaction is high for implantation of venous access devices under LA. A combination of LA with lorazepam administered orally might not be adequate for patients with a high level of anxiety and tension. The level of tension is often underestimated by the interventionist. Pre-procedural standardized questionnaires could be used to identify patients for whom a gradual approach of individualized sedation may be more effective.

18.
Urology ; 86(2): 388-93, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26169009

RESUMO

OBJECTIVE: To evaluate transrenal reversible ureteral occlusion with detachable balloons in patients with treatment-refractory urinary tract fistulas. METHODS: From September 2009 to September 2013, reversible occlusion of 18 ureters (7 men, 3 women; 27-74 years) with treatment-refractory urinary leakage mostly because of tumor disease or iatrogenic surgical injury was performed. Nephrostomy was exchanged fluoroscopically into an 8F or 9F sheath, which was introduced into the ureter to the point of intended balloon inflation. The prepared semicompliant balloon on a special microcatheter was introduced into the sheath, inflated, and detached. A nephrostomy tube was placed in the pelvicalyceal system. After healing of the fistulas, urinary flow was restored by transureteral removal or computed tomography-guided percutaneous puncture of the balloons. RESULTS: Hundred percent successful placement of the balloons and initial urinary fistula occlusion was achieved (18 of 18 ureters). One patient was lost during follow-up. Six of the remaining 9 patients needed reocclusion because of balloon dislocation or deflation (secondary technical success 83%; 5 of 6 ureters). A z-shaped ureter made reocclusion unsuccessful. Mean duration of ureteral occlusion was 74 days (5-250 days). After healing of the fistulas, intentional ureteral recanalization by percutaneous puncture or transureteral balloon removal was feasible. Anterograde urination was achieved in 5 of 9 patients (clinical success rate 55%). Four fistulas did not heal. Two patients died from their underlying disease. CONCLUSION: Transrenal reversible off-label ureteral occlusion with semicompliant detachable balloons is feasible with a high technical success rate. Long-term ureteral occlusion can be achieved in nearly all patients with a moderate clinical success rate in heavily diseased patients.


Assuntos
Fístula Urinária/cirurgia , Adulto , Idoso , Desenho de Equipamento , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Ureter , Procedimentos Cirúrgicos Urológicos/instrumentação , Procedimentos Cirúrgicos Urológicos/métodos
19.
PLoS One ; 9(12): e114737, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25489731

RESUMO

INTRODUCTION: Percutaneous renal biopsy (PRB) is a decisive diagnostic procedure for children and adolescents with renal diseases. Aim of this study was to evaluate retrospectively the complication rates of percutaneous kidney biopsies and their therapeutic consequences to assess the role of ultrasound-guidance including Doppler ultrasound examinations in preparation, execution and follow-up care and to present a recommended protocol. PATIENTS AND METHODS: Institutional review board approved this retrospective study; informed consent was waived. Between 1997 and 2011 a total of 438 ultrasound-guided biopsies were performed in 295 patients, 169 of the biopsies were performed on kidney transplants. Average age of patients was 10.2+/-5.2 years (range of 15 days until age of 23). Before and post biopsy ultrasound examination including Doppler examination was carried out. Biopsy itself was ultrasound monitored. Complications were analysed with regard to age of patient, kidney transplants, year of occurrence, number of punctures, performing physician and time interval of occurrence to develop an optimized protocol for ultrasound-guidance. RESULTS: In 99% of cases successful PRB were performed, i.e. enough kidney parenchyma for histological analysis was obtained. No lethal or major complication that required surgical intervention occurred. Eighteen relevant complications were observed (complication rate: 4.1%). Except in one case in which additional MRI diagnostic was necessary, ultrasound examination after 4 hours post biopsy or even earlier when symptoms occurred, was able to detect complications and determine indications for intervention. CONCLUSION: Ultrasound-guided PRB is an established and effective method in children and adolescents, but shows a certain rate of complications and therefore should not be indicated without diligence. Ultrasound including Doppler ultrasound is a valuable tool in preparation, guidance of biopsy, detection of complications and in follow-up care. Ultrasound examinations (including Doppler) pre-, during and 4 hours post kidney biopsy and, depending from case, a few days until weeks after biopsy is recommended.


Assuntos
Biópsia/efeitos adversos , Hematoma/diagnóstico por imagem , Nefropatias/etiologia , Rim/patologia , Complicações Pós-Operatórias , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Rim/diagnóstico por imagem , Nefropatias/diagnóstico por imagem , Masculino , Prognóstico , Estudos Retrospectivos , Ultrassonografia de Intervenção , Adulto Jovem
20.
Nat Rev Nephrol ; 10(12): 687-99, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25266212

RESUMO

Advances in molecular genetics have led to the identification of more than 70 different genes involved in the development of cystic kidney diseases. Most of these diseases are rare, and interpreting the resultant plethora of disease-causing mutations requires a methodical and meticulous approach to differential diagnosis. In this Review we discuss a clinical approach to the diagnosis of cystic kidney diseases in adults, for use by nephrologists. This approach is based upon a thorough clinical evaluation, which considers both kidney phenotype and extrarenal manifestations of the underlying disorder, in combination with genetic testing in selected patients. In our view, cystic kidney disease can (in the majority of patients) be reliably classified on the basis of clinical findings. We therefore propose that defining clinical situations to precipitate the initiation of genetic testing is mandatory and cost-effective. New techniques such as next-generation sequencing will facilitate the diagnosis of cystic kidney diseases in the future, increasing diagnostic safety in a subset of patients. In renal tumour syndromes, genetic testing is warranted.


Assuntos
Predisposição Genética para Doença/epidemiologia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Imagem Multimodal/métodos , Biópsia por Agulha , Progressão da Doença , Feminino , Testes Genéticos , Humanos , Imuno-Histoquímica , Doenças Renais Císticas/fisiopatologia , Imageamento por Ressonância Magnética/métodos , Masculino , Prognóstico , Medição de Risco , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X/métodos
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