Genetic Basis of Congenital and Infantile Nephrotic Syndromes
نویسندگان
چکیده
منابع مشابه
[Congenital and infantile nephrotic syndrome].
Congenital nephrotic syndrome is present at birth or appears during the first three months of life and infantile nephrotic syndrome during the first year. Finnish type congenital nephrotic syndrome is an autosomal recessive disease. Nephrotic syndrome is present at birth, severe and does not respond to therapy. Infectious and nutritional complications are frequent. Renal function deteriorates n...
متن کاملClinical and genetic basis of congenital myasthenic syndromes.
Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital my...
متن کاملGenetic basis of nephrotic syndrome--review.
Nephrotic syndrome (NS) is one of the most frequent syndromes characterized namely by heavy proteinuria. Majority of NS occurs as a sporadic form, the incidence of familial cases is from 3 to 5%. Seven genes have been recognized till present, which mutations are responsible for severe forms of NS: NPHS1, NPHS2, ACTN4, CD2AP and WT1, TRPC6, LAMB2. Proteins encoded by these genes (nephrin, podoci...
متن کاملGenetic basis of congenital strabismus.
Strabismus is misalignment of one eye in relation to the other, resulting in failure of the 2 eyes to simultaneously focus on the same image and loss of binocular vision. Strabismus affects 2% to 4% of the population and can result in amblyopia, which is often not discovered in time to initiate effective treatment. Thus, an understanding of the genetic underpinnings of strabismus may help ident...
متن کاملInfantile nephrotic syndrome.
DARREL, J.H., GARROD, L.P. & WATERWORTH, P.M. (1968) Trimethoprim: laboratory and clinical studies. Journal of Clinical Pathology, 21, 202. DAWSON, D.W. & ROUTLEDGE, R.C. (1971) Trimethoprim and sulphamethoxazole. British Medical Journal, 4, 364. EVANS, D.I.K. & TELL, R. (1969) Agranulocytosis after trimethoprim and sulphamethoxazole. British Medical Journal, 1, 578. HAMMETT, J.F. (1970) Thromb...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Kidney Diseases
سال: 2011
ISSN: 0272-6386
DOI: 10.1053/j.ajkd.2011.09.007