RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164067604
T1 De Toni Debré Fanconi Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164067604
RD 2024/04/23
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.