Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis
نویسندگان
چکیده
منابع مشابه
Clinical and Epidemiological Features of Early and Adult Onset Multiple Sclerosis in Hamedan, Iran, 2004–2005
Mazaheri Sh1, Fazlian MM2, Hossein Zadeh A3 1. Assistant Professor, Department of Neurology, Faculty of medicine, Hamedan University of Medical Sciences 2. General practitioner, Specialty and Subspecialty Hospital of Besat, Hamedan University of Medical Sciences 3. General practitioner, Hamedan Health Center Abstract Background: Multiple Sclerosis (MS) is one of the most common causes of chr...
متن کاملAutopsy cases of miliary tuberculosis: clinicopathologic features including background factors.
To assist physicians, especially young physicians, in identifying tuberculosis (TB) infection before the terminal stage, we analyzed 7 cases of numerous tuberculous granulomas in multiple organs and compared clinical and autopsy findings between cases. Patients ranged in age from 41 to 86 years at the time of death. The main chief complaint was fever of unknown origin (3 of 7 cases [43%]). The ...
متن کاملPrevalence and Clinicopathologic Features of Lip Lesions based on Biopsy
Introduction: The purpose of this study was to describe the clinicopathologic features of lip lesions for early diagnosis and suitable treatment of patients. Methods: This was a descriptive cross-sectional study on158 patients with lip lesions whose information was recorded in the Department of Pathology of Shahid Sadoughi Hospital from 2008-2012. Then the data were analyzed bySPSS software ...
متن کاملClinicopathologic and genetic features of young patients with colorectal cancer
Results 441 individuals from 353 families were identified, and to-date, medical records confirmed 254 diagnoses, which were included for analysis. Ninety patients (35.4%) had germline mutations in self or kin (31 MSH2, 36 MLHI, 1 MSH6, 3 PMS2, 24 APC, 2 MYH biallelic and 1 BRCA2). Individuals were classified into six categories; (a) 74 had Lynch syndrome (LS) confirmed by germline mutation or t...
متن کاملGenetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes
BACKGROUND Nephronophthisis (NPHP), which affects multiple organs, is a hereditary cystic kidney disease (CKD), characterized by interstitial fibrosis and numerous fluid-filled cysts in the kidneys. It is caused by mutations in NPHP genes, which encode for ciliary proteins known as nephrocystins. The disorder affects many people across the world and leads to end-stage renal disease. The aim of ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Kidney International Reports
سال: 2021
ISSN: 2468-0249
DOI: 10.1016/j.ekir.2021.02.005