Penyebab Sindroma Nail-patella
Either or both kneecaps patients with no, one of the arm bone (radius bone) had a dislocation in the elbow and there is a deformity of the pelvic bone. Patients do not have a cuckoo fingers or very poor growth, which is perforated and wrinkled. Iris-colored people. In 30% of patients, ultimately kidney failure.
DEFINITION
Nail-patella syndrome is a hereditary disease in a rare connective tissue, which causes abnormalities in the kidneys, bones, joints and nails of the fingers.
CAUSE
Genes that cause this syndrome is a dominant gene, meaning the children of the patients had a 50% chance to have this gene.
SYMPTOMS
Either or both kneecaps patients with no, one of the arm bone (radius bone) had a dislocation in the elbow and there is a deformity of the pelvic bone. Patients do not have a cuckoo fingers or very poor growth, which is perforated and wrinkled. Iris-colored people. In 30% of patients, ultimately kidney failure.
Diagnosis
Patient urine may contain protein (usually in small amounts), and sometimes containing blood. To do x-rays confirm the diagnosis of bone and kidney tissue biopsy.
TREATMENT
Patient urine may contain protein (usually in small amounts), and sometimes containing blood. To do x-rays confirm the diagnosis of bone and kidney tissue biopsy.
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