نتایج جستجو برای: alport syndrome

تعداد نتایج: 622022  

2009
Luis Santiago Cristóbal Cruz Natalio J. Izquierdo

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...

Journal: :Korean journal of ophthalmology : KJO 2005
Jae hyuk Choi Kyung sool Na Seon hee Bae Gyoung hwan Roh

Alport syndrome is a hereditary, progressive disease characterized by progressive nephritis, sensorineural deafness, and ocular abnormalities, including anterior lenticonus. The ultrastructure of the lens capsule abnormalities in Alport syndrome is reported. Four anterior lens capsules from 31-year-old patient and 26-year-old patient with lenticonus who were affected by the Alport syndrome were...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009
Elena Marcocci Vera Uliana Mirella Bruttini Rosangela Artuso Margherita Cirillo Silengo Marlenka Zerial Franco Bergesio Antonio Amoroso Silvana Savoldi Marco Pennesi Daniela Giachino Giuseppe Rombolà Giovanni Battista Fogazzi Cristina Rosatelli Ciro Dresch Martinhago Mario Carmellini Roberta Mancini Giuseppina Di Costanzo Ilaria Longo Alessandra Renieri Francesca Mari

BACKGROUND Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated with hearing loss and ocular anomalies. While the X-linked and the autosomal recessive forms are well known, the autosomal dominant form is not well acknowledged. METHODS We have clinically investigated 38 patients with a diagnosis of auto...

2016
Mashriq Alganabi Ahmad Eter

We report a case of a 48-year-old male who presented with hematuria of at least 10 years, and has a daughter with hematuria as well. The patient has a history of degenerative hearing loss, decreased vision and cataract formation, but no diabetes, hypertension or proteinuria. A full serology and urology workup was negative for any abnormality. A kidney biopsy for the patient revealed a diagnosis...

Journal: :Journal of the American Society of Nephrology : JASN 1997
J J Jansen J A Maassen F J van der Woude H A Lemmink J M van den Ouweland L M t' Hart H J Smeets J A Bruijn H H Lemkes

Several studies show an association of a guanine for adenine substitution (A-->G) at position 3243 in mitochondrial DNA (mtDNA) with a recently recognized diabetic subtype designated maternally inherited diabetes and deafness (MIDD). This mutation shows heterogeneity in its phenotypic expression as is apparent from its association with several other syndromes. Screening for the 3243A-->G mutati...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002
Jennifer C Hood Clive Huxtable Ichiro Naito Carole Smith Roger Sinclair Judy Savige

BACKGROUND Autosomal dominant Alport syndrome is a rare inherited disease characterized clinically by haematuria, renal failure and deafness, and ultrastructurally by a lamellated glomerular basement membrane (GBM). It is usually caused by mutations in the COL4A3 or COL4A4 genes which code for the alpha3 and alpha4 chains of type IV collagen. We describe here a novel spontaneous model of autoso...

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2015
Judy Savige Shivanand Sheth Anita Leys Anjali Nicholson Heather G Mack Deb Colville

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, flec...

Journal: :Saudi Journal of Kidney Diseases and Transplantation 2013

2016
David Langsford Mila Tang Ognjenka Djurdjev Lee Er Adeera Levin

BACKGROUND A progressive trajectory toward renal failure is common in patients with Alport syndrome. Genotype-phenotype correlations have been well described; however, the natural history of the trajectory toward renal failure is not well described. OBJECTIVE The objective of this study is to describe the natural history of renal function decline in a cohort of Alport syndrome patients. DES...

2017
Jane W. Kimani Karen E. Weck K. E. Weck

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...

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