奥尔波特综合征(Alport syndrome)
奥尔波特综合征(Alport syndrome)，又名奥尔波特氏综合征(Alport’s syndrome),也被称作遗传性肾炎（hereditary nephritis）。可在罕见疾病网上查询：Q87.801， 奥尔波特氏综合征（遗传性肾炎和耳聋）。
Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis, endstage kidney dia, and hearing loss. Alport syndrome can also affect the eyes (lenticonus). The prence of在职研究生英语 blood in the urine (hematuria) is almost always found in this condition.
It was first identified in a British family by Dr. Cecil A. Alport in 1927, though William Howship Dickinson is considered by some to have made contributions to the characterization.
病因：
Alport syndrome is caud by mutations in COL4A3, COL4A4, and COL4A5, collagen biosy
nthesis genes. Mutations in any of the genes prevent the proper production or asmbly of the type IV collagen network, which is an important structural component of bament membranes in the kidney, inner ear, and eye. Bament membranes are thin, sheet-like structures that parate and support cells in many tissues. When mutations prevent the formation of type IV collagen fibers, the bament membranes of the kidneys are not able to filter waste products from the blood and create urine normally, allowing blood and protein into the urine.
社保断交有什么影响
The abnormalities of type IV collagen in kidney bament membranes cau gradual scarring of the kidneys, eventually leading to kidney failure in many people with the dia. Progression of the dia leads to bament membrane thickening and gives a "basket-weave" appearance from splitting of the lamina densa. Single molecule computational studies of type IV collagen molecules have shown changes in the structure and nanomechanical behavior of mutated molecules, notably leading to a bent molecular shape with kinks.
遗传方式：
Alport syndrome can have different inheritance patterns that are dependent on the genetic mutation.
In most people with Alport syndrome, the condition is inherited in an X-linked pattern, due to mutations in the COL4A5 gene. A condition is considered X-linked if the gene involved in the disorder is located on the X chromosome. In males, who have only one X chromosome, one altered copy of the COL4A5 gene is sufficient to cau vere Alport syndrome, explaining why most affected males eventually develop kidney failure. In females, who have two X chromosomes, a mutation in one copy of the COL4A5 gene usually results in blood in the urine, but most affected females do not develop kidney failure.
席位卡
Alport syndrome can be inherited in an autosomal recessive pattern if both copies of the COL4A3 or COL4A4 gene, located on chromosome 2, have been mutated. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
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Past descriptions of an autosomal dominant form are now usually categorized as other conditions, though some us of the term in reference to the COL4A3 and COL4A4 loci have been published.
临床诊断：
Gregory et al., 1996, gave the following 10 criteria for the diagnosis of Alport syndrome; Four of the 10 criteria must be met:
1. Family history of nephritis of unexplained haematuria in a first degree relative of the index ca or in a male relative linked through any numbers of females.
2. Persistent haematuria without evidence of another possibly inherited nephropathy such as thin GBM dia, polycystic kidney dia or IgA nephropathy.
3. Bilateral nsorineural hearing loss in the 2000 to 8000 Hz range. The hearing loss develops gradually, is not prent in early infancy and commonly prents before the age of 30 years.
4. A mutation in COL4An (where n = 3, 4 or 5).
5. Immunohistochemical evidence of complete or partial lack of the Alport epitope in glomerular, or epidermal bament membranes, or both.
6. Widespread GBM ultrastructural abnormalities, in particular thickening, thinning and splitting.
愤青7. Ocular lesions including anterior lenticonus, posterior subcapsular cataract, posterior polymorphous dystrophy and retinal flecks.
8. Gradual progression to ESRD in the index ca of at least two family members.
9. Macrothrombocytopenia or granulocytic inclusions, similar to the May-Hegglin anomaly.
小孩咳嗽吃什么好10. Diffu leiomyomatosis of esophagus or female genitalia, or both.
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