کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6215308 1606655 2016 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی آسیب‌شناسی و فناوری پزشکی
پیش نمایش صفحه اول مقاله
Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease
چکیده انگلیسی

SummaryA 35-year-old woman was admitted to our hospital for evaluation of end-stage renal failure. Diagnostic imaging, including ultrasonography and magnetic resonance imaging, showed polycystic kidneys and peribiliary hepatic cysts, but the renal cysts were isointense and her kidneys were smaller than the end-stage kidneys of patients with autosomal dominant polycystic kidney disease. Glomerulocystic kidney disease was diagnosed by renal biopsy. Clinical examination revealed findings such as a missing maxillary canine, lingual anomalies, and brachydactyly. Genetic testing gave a diagnosis of orofaciodigital syndrome type 1 with a 5 nucleotide deletion indicating a frameshift mutation in exon 9. The patient's mother had the same mutation and similar clinical findings. This case is useful for understanding kidney and liver involvement in orofaciodigital syndrome type 1.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Human Pathology - Volume 55, September 2016, Pages 24-29
نویسندگان
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