Characteristic Features of Children with Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF-1) is the most common, progressive, multisystemic, autosomal dominant neurocutaneous syndrome. Its clinical features begin to present during childhood. Early diagnosis and follow-up of children with NF-1 is necessary due to predisposition to tumors and complications. Herein we aimed to evaluate patient characteristics', neuroradiologic findings and frequency of tumors in children with NF-1 who have been followed up at our center from January 1989 to June 2008. Medical records of 64 children with NF-1 were analized retrospectively for age, gender, diagnostic criteria for NF-1, unidentified bright objects (UBOs) on magnetic resonance imaging (MRI), complications related to NF-1, and tumors. The median age of patients was 9.5 years (0.5 18), M:F ratio was 1.2. The incidence of the diagnostic criteria were as following, café au lait spots: 100%, freckling: 62.5%,neurofibromas ± plexiform neurofibromas: 47%, Lisch nodules: 38%, optic gliomas: 11%,distinctive osseous lesions: 11%, and first degree relative with NF- 1: 30%. Cranial MRI had been performed in 38 patients, and 58% of them revealed UBOs. The most common complications were kyphoscoliosis (19%), convulsion (11%). Benign tumors and malignant ± benign tumors developed in52%and19%of patients, respectively. The importance of careful physical examination was showed by the high frequency of positive clinical diagnostic criteria of NF-1. The frequency of UBOs on MRI was high in children with NF-1. This was suggested that neuroradiologic findings may be proposed as an additional diagnostic criterion for NF-1, particularly for young children who didn't meet the diagnostic criteria. Management and follow up of complications related to NF-1, and offering genetic counseling to parents could be making by early diagnosis of NF-1 in childhood. The predisposition to tumors and the high frequencies of complications related to NF-1 were showed that the importance of multidisciplinary follow up of children with NF-1.Nörofibromatozis Tip1 (NF1) toplumda en sık karsılasılan, klinik bulguları çocukluk çagında ortaya çıkmaya baslayan, zamanla ilerleyici seyir göstererek pek çok sistemi etkileyebilen otozomal dominant geçisli bir nörokutan sendromdur. Beniyn ve maliyn tümör gelismesine yatkınlık yaratması ve NF1 iliskili komplikasyonlar nedeniyle, NF1' in çocukluk çagında erken tanısı ve klinik izlemi önemlidir. Bu çalısmada merkezimizde Ocak 1989-Haziran 2008 tarihleri arasında, NF1 tanısıyla izlenen çocuk hastaların karakteristik özellikleri, nöroradyolojik bulguları ve tümör sıklıgınındegerlendirilmesi amaçlanmıstır. Nörofibromatozis Tip1 tanı kriterlerini karsılayan 64 hastanın dosyaları retrospektif olarak incelendi. Hastaların yas, cinsiyet, NF1 tanı kriterleri, manyetik rezonans görüntülemede (MRG) tanımlanmamıs parlak objelerin (UBO: unidentified bright objects) görülme sıklıgı, NF1 iliskili komplikasyonlar, gelisen tümörler degerlendirildi. Hastaların ortanca tanı yası 9.5 yas (0.5 18), E:K oranı 1.2 bulundu. Tanı kriterlerinin sıklıgı: sütlü kahve lekeleri %100, çillenme %62.5, nörofibrom veya pleksiform nörofibrom %47, Lisch nodülü %38, optik gliom %11, kemik lezyonu %11, birinci derece akrabalarda NF1 tanısı %30 bulundu. Kraniyal MRG yapılan 38 hastadan 58%'inde UBO mevcuttu. En sık gelisen komplikasyonlar; kifoskolyoz (%19) ve konvülzyondu (%11). Hastaların %52'inde beniyn, %19'inde maliyn±beniyn tümörler gelismisti. Nörofibromatozis Tip1'in fizik inceleme ile saptanabilen klinik tanısal kriterlerinin sıklıgı, iyi bir fizik incelemenin önemini göstermektedir. Kraniyal MRG ile NF1 tanılı çocuk hastalarda yüksek oranda UBO pozitifligi izlendigi görülmüstür. Bu bulgu, özellikle henüz klinik bulguları NF1 kriterlerini karsılamayan küçük yas grubunda nöroradyolojik bulguların ek bir kriter olarak arastırılmasının hastaların erken tanısını saglayabilecegini düsündürmektedir. Erken tanı ile hem çocukta gelisebilecek problemlerin izlemi ve tedavisi, hem de ailelere genetik danısma verilmesi saglanabilecektir. Beniyn ve maliyn tümörlere yatkınlık ve diger NF1 iliskili komplikasyonların sıklıgının yüksek olması, NF1 tanılı çocukların multidisipliner izleminin önemini göstermistir

Urinary Findings and Biomarkers in Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD), characterized by the development of multiple cysts in the kidneys and other organs, is the most common hereditary renal disorder and the fourth leading cause of end-stage renal disease. In adults with a positive family history, the diagnosis of ADPKD is made based on the radiologic evidence of bilateral, fluid-filled renal cysts. Furthermore, initial symptoms including pain, increased thirst, polyuria, nocturia, and increased urinary frequency may lead to the diagnosis of ADPKD. An easily accessible, applicable, and cost-effective biomarker is needed to predict the clinical course of ADPKD due to its progressive pattern. Urine is an easily obtainable and widely used test specimen for diagnosis and follow-up in several renal diseases. Thus, the aim of the present study was to review and assess new urinary biomarkers and urinary findings in ADPKD

Clinical problems in hemodialysis patients with autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic disease characterized by massive enlargement of fluid-filled cysts in the kidney. Due to its genetic pattern, the disease differs from other CKD. ADPKD is a multi-system, progressive disorder which is frequently complicated with hypertension, cardiovascular events and cerebrovascular disease. Thus, there are many clinical problems specific to ADPKD. In this article, we reviewed these clinical problems and their management in ADPKD with hemodialysis patients

Nebivolol can be used for combination therapy in patients with autosomal dominant polycystic kidney disease

WOS: 000395198000013PubMed ID: 28234564