Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report
نویسندگان
چکیده
منابع مشابه
Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...
متن کاملA Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
متن کاملSpontaneous coronary artery dissection in a patient with autosomal dominant polycystic kidney disease: a case report.
BACKGROUND Spontaneous coronary artery dissection is an uncommon syndrome. Its prevalence among patients with polycystic kidney disease is very rare, with no previously reported involvement of the right posterior descending coronary artery. CASE PRESENTATION We describe the case of a middle-aged Caucasian woman with polycystic kidney disease who presented with a non-ST elevation myocardial in...
متن کاملDissection of Iliac Artery in a Patient With Autosomal Dominant Polycystic Kidney Disease: A Case Report.
Autosomal dominant polycystic kidney disease (ADPKD) is a risk factor for several cardiovascular disorders such as intracranial aneurysm or aortic dissection, preferentially occurring at the thoracic or abdominal level. A 47-year-old man suffering from ADPKD had renal transplantation. Sixteen hours after surgery, he presented with left leg pain. Clinical and ultrasound examination revealed thro...
متن کاملFasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...
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: Nature Medicine
سال: 2019
ISSN: 1078-8956,1546-170X
DOI: 10.1038/s41591-019-0611-3