LMX1B mutations with nails and kneecaps: a new paradigm?

نویسنده

  • Kevin V Lemley
چکیده

tation from older living donors. Transplantation 2013; 95: 106–113 20. Fuggle SV, Allen JE, Johnson RJ et al. Factors affecting graft and patient survival after live donor kidney transplantation in the UK. Transplantation 2010; 89: 694–701 21. Chang P, Gill J, Dong J et al. Living donor age and kidney allograft half-life: implications for living donor paired exchange programs. Clin J Am Soc Nephrol 2012; 7: 835–841 22. Noppakun K, Cosio FG, Dean PG, Taler SJ, Wauters R, Grande JP. Living donor age and kidney transplant outcomes. Am J Transplant 2011; 11: 1279–1286 23. Young A, Kim SJ, Speechley MR et al. Accepting kidneys from older living donors: impact on transplant recipient outcomes. Am J Transplant 2011; 11: 743–750 24. Tso PL, Dar WA, Henry ML. With respect to elderly patients: finding kidneys in the context of new allocation concepts. Am J Transplant 2012; 12: 1091–1098 25. Rook M, Hofker HS, van Son WJ, Homan van der Heide JJ, Ploeg RJ, Navis GJ. Predictive capacity of pre-donation GFR and renal reserve capacity for donor renal function after living kidney donation. Am J Transplant 2006; 6: 1653–1659 26. Young A, Storsley L, Garg AX et al. Health outcomes for living kidney donors with isolated medical abnormalities: a systematic review. Am J Transplant 2008; 8: 1878–1890 27. Ommen ES, Winston JA, Murphy B. Medical risks in living kidney donors: absence of proof is not proof of absence. Clin J Am Soc Nephrol 2006; 1: 885–895

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منابع مشابه

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

Nail-patella syndrome (NPS) is an inherited developmental disorder most commonly involving maldevelopment of the fingernails, kneecaps and elbow joints. NPS exhibits wide variation in phenotypic expression within and among families with respect to these features. Other skeletal abnormalities such as hip dislocation and club foot have also been reported in some individuals with NPS. There is an ...

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Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.

Nail-patella syndrome is an autosomal dominant disorder characterized by dyplasia of finger nails, skeletal anomalies, and, frequently, renal disease. It has recently been shown that this disorder is caused by putative loss-of-function mutations in a transcription factor (LMX1B) belonging to the LIM-homeodomain family, members of which are known to be important for pattern formation during deve...

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Clinico-Genetic Study of Nail-Patella Syndrome

Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by loss-of-function mutations in the LMX1B gene. In this study, phenotype-genotype correlation was analyzed in 9 unrelated Korean children with NPS and their affecte...

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Nail patella syndrome: a review of the phenotype aided by developmental biology.

Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes, and iliac horns on x ray. Kidney involvement may lead to renal failure and there is also a risk of glaucoma. There is marked inter- and intrafamilial variability. The ...

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Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation

BACKGROUND Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION A 24-year-old woman presented to our hospital with knee ...

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عنوان ژورنال:
  • Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

دوره 29 1  شماره 

صفحات  -

تاریخ انتشار 2014