Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations
نویسندگان
چکیده
منابع مشابه
Tuberous sclerosis complex renal disease.
Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...
متن کاملTuberous Sclerosis Complex Renal Disease
Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...
متن کاملCutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediat...
متن کاملNeurological and neuropsychiatric aspects of tuberous sclerosis complex.
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 genes lead to disruption of the TSC1-TSC2 intracellular protein complex, causing overactivation of the mammalian target of rapamycin (mTOR) protein complex. The surveillance and management guidelines and clinical criteri...
متن کاملPulmonary manifestations of tuberous sclerosis in first degree relatives.
In a family with tuberous sclerosis affecting four generations a mother and daughter had the rare pulmonary manifestations of the disease. Pathologically the pulmonary disease may be the same as pulmonary lymphangioleiomyomatosis.
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ژورنال
عنوان ژورنال: Neuropediatrics
سال: 2010
ISSN: 0174-304X,1439-1899
DOI: 10.1055/s-0030-1269906