Renal tubular acidosis with an elevated urinary β-2 microglobulin in a boy presenting with sporadic hypophosphataemic rickets and intellectual disability (Dent's Disease)

2017 ◽  
Author(s):  
Justin Brown ◽  
Lilian Johnstone ◽  
Alison Yeung ◽  
Christine Rodda
Keyword(s):  
Intellectual Disability ◽  
Renal Tubular Acidosis ◽  
Hypophosphataemic Rickets ◽  
Dent’S Disease ◽  
Dent's Disease ◽  
Renal Tubular

scholarly journals CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

2010 ◽  
Vol 298 (2) ◽  
pp. F365-F380 ◽  
Author(s):  
Anita A. C. Reed ◽  
Nellie Y. Loh ◽  
Sara Terryn ◽  
Jonathan D. Lippiat ◽  
Chris Partridge ◽  
...  
Keyword(s):  
Plasma Membrane ◽  
Endocytic Pathway ◽  
Cell Surface Expression ◽  
Renal Tubules ◽  
Membrane Expression ◽  
Dent’S Disease ◽  
Dent's Disease ◽  
Plasma Membrane Expression ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Renal tubular reabsorption is important for extracellular fluid homeostasis and much of this occurs via the receptor-mediated endocytic pathway. This pathway is disrupted in Dent’s disease, an X-linked renal tubular disorder that is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. Dent's disease is due to mutations of CLC-5, a chloride/proton antiporter, expressed in endosomes and apical membranes of renal tubules. Loss of CLC-5 function alters receptor-mediated endocytosis and trafficking of megalin and cubilin, although the underlying mechanisms remain to be elucidated. Here, we report that CLC-5 interacts with kinesin family member 3B (KIF3B), a heterotrimeric motor protein that facilitates fast anterograde translocation of membranous organelles. Using yeast two-hybrid, glutathione- S-transferase pull-down and coimmunoprecipitation assays, the COOH terminus of CLC-5 and the coiled-coil and globular domains of KIF3B were shown to interact. This was confirmed in vivo by endogenous coimmunoprecipitation of CLC-5 and KIF3B and codistribution with endosomal markers in mouse kidney fractions. Confocal live cell imaging in kidney cells further demonstrated association of CLC-5 and KIF3B, and transport of CLC-5-containing vesicles along KIF3B microtubules. KIF3B overexpression and underexpression, using siRNA, had reciprocal effects on whole cell chloride current amplitudes, CLC-5 cell surface expression, and endocytosis of albumin and transferrin. Clcn5Y/− mouse kidneys and isolated proximal tubular polarized cells showed increased KIF3B expression, whose effects on albumin endocytosis were dependent on CLC-5 expression. Thus, the CLC-5 and KIF3B interaction is important for CLC-5 plasma membrane expression and for facilitating endocytosis and microtubular transport in the kidney.

Chloride and sodium renal tubular handling in Dent’s disease

2005 ◽  
Vol 20 (8) ◽  
pp. 1198-1199 ◽  
Author(s):  
Montserrat Antón-Gamero ◽  
Félix Claverie-Martín ◽  
Víctor García-Nieto ◽  
Francisco Vela-Enríquez ◽  
Elena García-Martínez ◽  
...  
Keyword(s):  
Dent’S Disease ◽  
Dent's Disease ◽  
Renal Tubular

Renal tubular acidosis

1968 ◽  
Vol 121 (1) ◽  
pp. 81-86 ◽  
Author(s):  
W. M. Bennett
Keyword(s):  
Renal Tubular Acidosis ◽  
Renal Tubular

Alterations of CLC-5 expression, function and trafficking in Dent's disease

2013 ◽  
pp. 1-1
Author(s):  
Caroline Gorvin ◽  
Martijn Wilmer ◽  
Sian Piret ◽  
Brian Harding ◽  
Lambertus van den Heuvel ◽  
...  
Keyword(s):  
Dent’S Disease ◽  
Dent's Disease

A Novel Mutation in the Anion Exchanger 1 Gene Is Associated With Familial Distal Renal Tubular Acidosis and Nephrocalcinosis

PEDIATRICS ◽  
2003 ◽  
Vol 112 (6) ◽  
pp. 1361-1367 ◽  
Author(s):  
L. Cheidde ◽  
T. C. Vieira ◽  
P. R. M. Lima ◽  
S. T. O. Saad ◽  
I. P. Heilberg
Keyword(s):  
Renal Tubular Acidosis ◽  
Anion Exchanger ◽  
Novel Mutation ◽  
Distal Renal Tubular Acidosis ◽  
Anion Exchanger 1 ◽  
Renal Tubular

25. A Christmas conundrum: What ailed Tiny Tim?

2007 ◽  
Vol 30 (4) ◽  
pp. 41
Author(s):  
L. Bogle
Keyword(s):  
Charles Dickens ◽  
Renal Tubular Acidosis ◽  
Medical Science ◽  
Personal Health ◽  
Original Manuscript ◽  
Renal Tubular

Tiny Tim Cratchit is the captivating soul of one of the English language’s most beloved stories, Charles Dickens’ A Christmas Carol. His mysterious crippling disorder is quite the medical enigma, being intermittent, unilateral and fatal if left untreated. His tiny stature can also be counted amongst his symptoms. However, the most startling aspect of his condition is its ability to be cured in 1840s London with Ebenezer Scrooge’s limitless funds. While Tim is saved after Scrooge’s reformation, Dickens never mentions what disease afflicted the little youngster. Upon examining Dickens personal health and previous literary talent of describing diseases unknown to medical science at the time, the ailment is validated as an accurate depiction of a real malady. Two major theories exist as to the nature of the disease. Tuberculosis and renal tubular acidosis are offered as explanations to the interesting symptoms Tim experienced. The debate hinges on the interpretation of the original manuscript that, ‘Tiny Tim did not die.’ While survival is possible from the more common tuberculosis in 1843, a full cure was available from renal tubular acidosis via the alkali tonics available at that time. The debate may rage on indefinitely. Callahan C. Tiny Tim remembered. Am J Dis Child 1991; 145:1355-6. Jones P. Dickens’ literary children. Aust Pediatr J 1972; 8:233-45. Lewis D. What was wrong with Tiny Tim? Am J Dis Child 1992; 146:1403-1407.

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