نتایج جستجو برای: tubular syndrome

تعداد نتایج: 649657  

Journal: :Archives of disease in childhood 1975
S Nicholls D Gill J Craske

Two cases of Reye's syndrome, complicated by acute reversible renal failure, are presented. One case followed an influenza A virus infection.

2010
Ana Marques Lina Ramos Clara Gomes António J. Correia

Oculocerebrorenal or Lowe Syndrome is characterised by bilateral congenital cataracts, renal tubular dysfunction and hypotonia. It is a rare X -linked disorder caused by mutations of the OCRL1 gene located at Xq26.1, resulting in phosphatidylinositol 4,5 -bisphosphate (PIP2) 5 phosphatase deficiency. The diagnosis is based on morphological characteristics. Pre and postnatal diagnosis is made by...

Journal: :Archives of disease in childhood 2004
G F Laube I M Russell-Eggitt W G van't Hoff

The early diagnosis of Lowe's syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe's syndrome. Measurement of these urine parameters is recommended in suspected cases.

2017
Yelitza Velarde-Mejía Rocío Gamboa-Cárdenas Manuel Ugarte-Gil César Pastor Asurza

Acute hypokalemic paralysis is a rare and potentially fatal condition, with few related causes, one of which highlights distal renal tubular acidosis (dRTA). Distal renal tubular acidosis is a rare complication of several autoimmune diseases such as systemic lupus erythematosus, Sjögren's syndrome, and Hashimoto thyroiditis. We report a case of a lupic patient who presented rapidly progressive ...

2008
A. S. LUDER S. L. COHEN C. FISHER

Introduction Abnormalities of proximal renal tubular function in the nephrotic syndrome are rare but well documented (Bruck, Rapoport and Rubin, 1954; Kovnat and Lin, 1974; Pabico et al., 1976), particularly in children. The mechanisms underlying this combination remain obscure; a number have been proposed (Vitacco et al., 1970) including the recent speculation that a common mechanism linked by...

Journal: :Journal of Translational Medicine 2012

Journal: :International Journal of Contemporary Pediatrics 2018

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