8 th International Conference Paediatric Continuous Renal Replacement Therapy London 18 th July Dr Mike Champion Department of Inherited Metabolic Disease Evelina London Childrens Hospital ID: 760154
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Slide1
Inborn Errors of Metabolism: Perspectives from Metabolic Physician, Paediatric Intensivist and Nephrologist
8th International ConferencePaediatric Continuous Renal Replacement TherapyLondon 18th JulyDr Mike ChampionDepartment of Inherited Metabolic Disease,Evelina London Children’s Hospital
Slide2Ammonia
Slide3Ammonia Differential Diagnosis
Infectioneg proteus, klebsiellaHerpes simplexLiver failureProtein load & catabolismeg trauma, burnsGI bleedChemotherapyPortosystemic ShuntDrugsValproateCarbamazepine
Inborn Errors of Metabolism
Urea Cycle Defects
Enzymes eg OTC deficiency
Transport eg LPI, HHH
Organic Acidaemias
Fat Oxidation Defects
Pyruvate Carboxylase defciency
OAT deficiency (neo/infants)
HIHA
Transient Hyperammonaemia of the Newborn
Slide4Hyperammonaemia & RRT
Rare problem
UK 215 UCDs (10 yrs)
17% neonatal cases dialysed (40% died)
Chakrapani 2009
US 299 UCDs (25 yrs)
60% neonatal cases dialysed , 7% older cases dialysed
Enns 2007
Birmingham 14 neonatal cases in 10yrs requiring CVVH
Westrope 2010
Slide5Mortality/Morbidity
UK n=215 UCDs (10 yrs)
36% mortality, 78% disability neonatal presentation
14% mortality, 56% disability overall
Chakrapani 2009
US n=299 UCDs (25 yrs)
32% mortality
16% mortality overall
Enns 2007
Ammonia Team, Stanford n=11
Neonatal UCD mortality 9%
Enns 2009
Slide6Prognosis
Related to peak ammonia + duration
If peak ammonia > 350
m
mol/l significant CNS deficits
n=108 UCDs
Uchino 1998
Good outcome if ammonia < 250
m
mol/l or coma resolved
<48 hrs of onset symptoms n=12 UCDs
Walter 2000
More likely to die if coma or ammonia >1000
m
mol/l
Better outcome if ammonia <500
m
mol/l n=299 UCDs
Enns 2007
Peak ammonia
>
200
m
mol/l within first 48 hrs
independent risk factor for mortality (esp liver failure) n=90 UCD or LF
Ozanne 2011