Alport syndrome associated with diffuse leiomyomatosis: COL4A5‐COL4A6 deletion associated with a mild form of Alport nephropathy
نویسندگان
چکیده
منابع مشابه
Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.
BACKGROUND The X-linked Alport syndrome (AS) is an inherited nephropathy due to mutations in the COL4A5 gene, encoding the alpha5 chain of type IV collagen, a major component of the glomerular basement membrane (GBM). Here, we report a new kindred with the rare association of X-linked AS and diffuse leiomyomatosis (DL), which is a tumourous process involving smooth muscle cells of the oesophagu...
متن کاملExtensive preoperative workup in diffuse esophageal leiomyomatosis associated with Alport syndrome influences surgical treatment: A case report
INTRODUCTION Diffuse esophageal leiomyomatosis is a rare disease. Misdiagnosis is frequent and previous surgeries can complicate surgical management. The only treatment described for severe symptomatic cases is esophagectomy. PRESENTATION OF CASE We describe a case of diffuse esophageal leiomyomatosis associated with Alport syndrome in a 21 year-old female where endoscopic ultrasonography (EU...
متن کاملTemporal macular thinning associated with X-linked Alport syndrome.
IMPORTANCE Optical coherence tomography (OCT) findings of temporal macular thinning are important in the diagnosis and prognosis of X-linked Alport syndrome (XLAS). OBJECTIVES To report OCT findings and severity of temporal macular thinning in a cohort with XLAS and to correlate these and other ocular findings with mutation genotype. DESIGN Patients with XLAS underwent genotyping for COL4A5...
متن کاملCataract in a patient with the Alport syndrome and diffuse Leiomyomatosis Catarata em paciente com sindrome de alport e leiomiomatose difusa
We describe a case of painless progressive loss of vision in a 15 years old male patient with Alport syndrome and diffuse Leiomyomatosis. After a comprehensive history and ocular examination, a diagnosis of bilateral posterior subcapsular cataracts was given. Patient underwent cataract extraction. His best corrected post-operative visual acuity was 20/25 in both eyes. We conclude that posterior...
متن کاملAlport Syndrome
A.K. was a 5-year-old boy who presented to the pediatric nephrology clinic with a recent finding of microscopic hematuria and proteinuria on routine screening. The analysis was repeated two weeks later with persistence of hematuria and proteinuria. A complete blood count (CBC) and a metabolic panel (Chem7) were both normal. Renal ultrasound was performed which was also normal and without hydron...
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: Nephrology Dialysis Transplantation
سال: 2002
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/17.1.70