ISSN: 2574-7800
Authors: Boudghene Stambouli O* and Zoulikha H
The "Nail-Patella syndrome" or onycho-osteodysplasia is transmitted as an autosomal dominant pleiotropic whose manifestations suggest an abnormality primary connective tissue. The disease has been described in all populations. It is characterized by dystrophic nails, fingers and toes (80 to 90%), absence or hypoplasia of the ball joints, elbows dysplasia and exostosis of the iliac wings (30 to 70% of cases). Nephropathy is inconsistent with type of proteinuria sometimes nephrotic syndrome, hematuria (half the cases). Approximately 30% of patients progress to ESRD at an average age of 33. Objective: We report the observation of two different families Observation: Nail Patella Syndrome (NPS) is a rare genetic disease, estimated at 22 cases / million in contrast to the poverty of familial cases reported in the literature impact. It is transmitted as an autosomal dominant trait with variable expression. Anomalies are located on the 9q34 genes LMXMB position are similar to those of ABO blood groups and adenylate cyclase and which encode a protein belonging to the family of LIM- homeobox domain , involved in limb morphogenesis and the anterior chamber of the eye, the maturation of renal podocytes increased collagen type I synthesis. It was suggested that the coexistence of two allelic mutations of which would be responsible for the form with nephropathy and the other form without nephropathy. Methods: In fact, 80 to 90 percent of patients have onycho - skeletal abnormalities from birth .In our patients, the nail pterygium was reported at birth and orthopedic symptoms, confirmed by the very rich radiological exploration in both observations. During the SNP renal disease is objectified in half of cases among both men and women. In the first family were not noted or renal abnormalities in the father or to his daughter when we have objectified proteinuria in the second family. Ocular involvement is absent in both cases. Our first observation is characterized by the predominance of onycho - skeletal involvement. Results: This reinforces the hypothesis not responsible for renal disease allelic mutation. Scarf and coll.ont mentioned the existence of a new type of pediatric renal impairment where the nail and bone is absent. With reference to this entity, we can only strengthen suggestion that the mutation on a particular allele will be responsible for renal disease or not.
Conclusion: The development of means including immune histochemical diagnostic and genetic genital will in the near future to determine the risk of developing since renal impairment was observed that the collagen fibrils are a constant manifestation of the SNP and are also observed in patients with renal impairment is not clinically detectable
Keywords: Nail; Nephropathy; Syndrome Patella
