(Osteo-onychodysplasia; arthro-onychodysplasia; Onycho-osteodysplasia)

The nail-patella syndrome is a rare inherited disorder of mesenchymal tissue, which is characterized by abnormalities of the bones, joints, fingernails, toenails and kidneys.

The nail-patella syndrome is an autosomal dominant disorder caused by a mutation in the gene for the transcription factor LMX1B that plays a significant role in the development of the spine and kidneys.

The nail-patella syndrome is a rare inherited disorder of mesenchymal tissue, which is characterized by abnormalities of the bones, joints, fingernails, toenails and kidneys. The nail-patella syndrome is an autosomal dominant disorder caused by a mutation in the gene for the transcription factor LMX1B that plays a significant role in the development of the spine and kidneys. It occurred bilateral hypoplasia or absence of the patella subluxation of the radial head and bilateral iliac additional spines on. The fingernails and toenails are missing or hypoplastic with grooves and pits. The renal function is impaired in 50% of patients due to a focal segmental glomerular deposition of IgM and C3. Proteinuria and hematuria are the most common manifestations. In 30% of patients with renal involvement but the disease is progressive, and even renal failure. The diagnosis is suspected clinically, sometimes a kidney biopsy and X-rays of the bones are indexed that are diagnostic. A LMX1B mutation analysis is possible, even in the context of prenatal diagnosis. but the nature of the mutation is not necessarily with the clinical picture match. LMXB1 mutations that affect only the kidneys have been described. There is no specific treatment. Kidney transplants are successful when they are indexed. The disease occurs in the transplant not rise again.

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