TY  - CHAP
M1  - Book, Section
TI  - De Toni Debré Fanconi Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - A  rare  acquired  or  inherited  condition  involving  a  generalized  transport  defect  within  the  proximal  tubules  of  the  kidneys  leading  to  renal  losses  of  glucose,  phosphate,  calcium,  uric  acid,  amino  acids,  and  bicarbonates.  The  clinical  features  include  short  stature,  osteomalacia,  and  renal  failure.  Variants  of  Fanconi  Syndrome  are  determined  by  how  they  affect  the  proximal  tubule  and  its  resulting  complications.  The  loss  of  bicarbonate  results  in  Type  2  Fanconi  Syndrome  often  classified  as  “proximal  renal  tubular  acidosis.”  The  loss  of  phosphate  results  in  rickets  and  osteomalacia.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164067604
ER  -