http://owiki.kmu.edu.tw/index.php?action=history&feed=atom&title=Nail-patella_syndrome 2026-04-24T01:51:14Z 本站上此頁的修訂歷史 MediaWiki 1.10.1 http://owiki.kmu.edu.tw/index.php?title=Nail-patella_syndrome&diff=24448&oldid=prev 2018-03-14T01:59:16Z

<p>新頁面: *AD inheritance *Genetic defect **Haploinsufficiency for the LIM homeodomain transcription factor ~LMX1B (chromosome 9q34) **~LMX1B regulates a3(IV), a4(IV) and type III collagen, podocin...</p> <p><b>新頁面</b></p><div>*AD inheritance<br /> *Genetic defect<br /> **Haploinsufficiency for the LIM homeodomain transcription factor ~LMX1B (chromosome 9q34)<br /> **~LMX1B regulates a3(IV), a4(IV) and type III collagen, podocin, and CD2AP in the slit-pore membranes connecting ''podocytes''<br /> **Haploinsufficiency<br /> ***Wikipedia<br /> ****Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy of the gene does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or diseased state. It is responsible for some but not all autosomal dominant disorders.<br /> ***Harrison's<br /> ****Often occurrs in mutations of transcription factors or rate-limiting enzymes<br /> *Iliac horns on pelvis, dysplasia of dorsal limbs (patella, elbows, and nails), neural-sensory hearing impairment, glaucoma<br /> *GN (30%)<br /> **''More common in females'' for unknown reasons<br /> **At 30 y/o: hematuria, proteinuria, renal failure<br /> **Renal transplantation is indicated<br /> *Pathology<br /> **Electron microscope<br /> ***&quot;Moth-eaten&quot; GBM (lucent damage to the lamina densa of the GBM)</div>

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