scholarly journals Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Renal Tubular ◽  
Renal Tubular Disease

Excretion of beta 2-glycoprotein I (apolipoprotein H) in renal tubular disease

1991 ◽  
Vol 37 (1) ◽  
pp. 74-77 ◽  
Author(s):  
A G W Norden ◽  
L M Fulcher ◽  
M Lapsley ◽  
F V Flynn
Keyword(s):  
Multiple Forms ◽  
Bence Jones Protein ◽  
Major Urinary Protein ◽  
Glycoprotein I ◽  
Apolipoprotein H ◽  
Beta 2 ◽  
Renal Tubular ◽  
Renal Tubular Disease ◽  
Urine Proteins ◽  
Tubular Proteins

Abstract beta 2-Glycoprotein I (beta 2GI) was identified as a major urinary protein excreted by patients with several renal tubular diseases, including adult Fanconi syndrome, nephrocalcinosis associated with autoimmune diseases, Lowe's syndrome, and Dent's disease (a familial renal tubular disease). Sixteen patients excreted between 2 and 40 mg of beta 2GI per millimole of creatinine. In contrast, 18 healthy controls had undetectable amounts of beta 2GI in urine. Isoelectric focusing followed by immunoblotting demonstrated multiple forms of beta 2GI with pls between 6.4 and 8.2. These pls are higher than for several other "tubular proteins"; beta 2GI may therefore be less retarded than more-anionic proteins by the glomerular charge-barrier. This could explain why large quantities of beta 2GI are excreted despite its relatively high molecular mass (50 kDa). Excretion of beta 2GI was easily demonstrated by routine electrophoresis of urine proteins. beta 2GI migrates in the beta-gamma region and may be confused with Bence Jones protein. beta 2GI is stable for at least two years in urine frozen at -25 degrees C.

Renal Tubular Disease

2008 ◽  
pp. 193-211
Author(s):  
Russell W. Chesney
Keyword(s):  
Renal Tubular ◽  
Renal Tubular Disease

Renal medullary cystic disease or familial juvenile nephronophthisis: A renal tubular disease

1970 ◽  
Vol 48 (2) ◽  
pp. 174-184 ◽  
Author(s):  
Nils Giselson ◽  
Dick Heinegard ◽  
Carl-Gottfrid Holmberg ◽  
Lars-Göran Lindberg ◽  
Eric Lindstedt ◽  
...  
Keyword(s):  
Cystic Disease ◽  
Medullary Cystic Disease ◽  
Familial Juvenile Nephronophthisis ◽  
Renal Tubular ◽  
Renal Tubular Disease ◽  
Juvenile Nephronophthisis ◽  
Renal Medullary Cystic Disease

scholarly journals Glomerular podocyte dysfunction in inherited renal tubular disease

2021 ◽  
Author(s):  
Li-Min Huang ◽  
Jian-Hua Mao
Keyword(s):  
Morphological Changes ◽  
Clinical Signs ◽  
Gitelman Syndrome ◽  
Dent Disease ◽  
Tubular Damage ◽  
Electrolyte Disturbances ◽  
Glomerular Lesions ◽  
Glomerular Involvement ◽  
Renal Tubular ◽  
Renal Tubular Disease

Abstract Background Hereditary renal tubular disease can cause hypercalciuria, acid-base imbalance, hypokalemia, hypomagnesemia, rickets, kidney stones, etc. If these diseases are not diagnosed or treated in time, they can cause kidney damage and electrolyte disturbances, which can be detrimental to the maturation and development of the child. Glomerular involvement in renal tubular disease patients has only been considered recently. Methods We screened 71 papers (including experimental research, clinical research, etc.) about Dent’s disease, Gitelman syndrome, and cystinosis from PubMed, and made reference. Results Glomerular disease was initially underestimated among the clinical signs of renal tubular disease or was treated merely as a consequence of the tubular damage. Renal tubular diseases affect glomerular podocytes through certain mechanisms resulting in functional damage, morphological changes, and glomerular lesions. Conclusions This article focuses on the progress of changes in glomerular podocyte function in Dent disease, Gitelman syndrome, and cystinosis for the purposes of facilitating clinically accurate diagnosis and scientific treatment and improving prognosis.

Renal tubular disease in the era of combination antiretroviral therapy

AIDS ◽  
2015 ◽  
Vol 29 (14) ◽  
pp. 1831-1836 ◽  
Author(s):  
Lisa Hamzah ◽  
John W. Booth ◽  
Sophie Jose ◽  
Stephen P. McAdoo ◽  
Emil A. Kumar ◽  
...  
Keyword(s):  
Antiretroviral Therapy ◽  
Combination Antiretroviral Therapy ◽  
Renal Tubular ◽  
Renal Tubular Disease
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