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It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Although LMX1B is a developmental LIM-homeodomain transcription factor, it is expressed in post-natal life in the glomerular podocyte, suggesting a regulatory role in that cell. Kidney disease in NPS seems to occur more often in some families with NPS, but it does not segregate with any particular mutation type or location. Two patterns of NPS nephropathy may be distinguished. Most affected individuals manifest only an accelerated age-related loss of filtration function in comparison with unaffected individuals. Development of symptomatic kidney failure is rare in this group, and proteinuria (present in approximately one-third) does not appear to be progressive. A small minority (5\u201310%) of individuals with NPS develop nephrotic-range proteinuria as early as childhood or young adulthood and progress to end-stage kidney failure over variable periods of time. It is proposed that this latter group reflects the effects of more global podocyte dysfunction, possibly due to the combination of a mutation in LMX1B along with an otherwise innocuous polymorphism or mutation involving any of several genes expressed in podocytes (e.g.\n                    <jats:italic>NPHS2<\/jats:italic>\n                    ,\n                    <jats:italic>CD2AP<\/jats:italic>\n                    ), the transription of which is regulated by LMX1B.\n                  <\/jats:p>","DOI":"10.1007\/s00467-008-0836-8","type":"journal-article","created":{"date-parts":[[2008,6,5]],"date-time":"2008-06-05T10:23:32Z","timestamp":1212661412000},"page":"2345-2354","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":92,"title":["Kidney disease in nail\u2013patella syndrome"],"prefix":"10.1007","volume":"24","author":[{"given":"Kevin V.","family":"Lemley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,6,6]]},"reference":[{"key":"836_CR1","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/jmg.40.3.153","volume":"40","author":"E Sweeney","year":"2003","unstructured":"Sweeney E, Fryer A, Mountford R, Green A, McIntosh I (2003) Nail patella syndrome: a review of the phenotype aided by developmental biology. 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