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Case Study in RRT in In Born Error of Metabolism. Timothy E. Bunchman Pediatric Nephrology & Transplantation VCU School of Medicine tbunchman@mcvh-vcu.edu pcrrt@aol.com www.pcrrt.com. In Born Error of Metabolism. 2.9 kg infant presents at 48 hours of life with lethargy.

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case study in rrt in in born error of metabolism

Case Study in RRT in In Born Error of Metabolism

Timothy E. Bunchman

Pediatric Nephrology & Transplantation

VCU School of Medicine

tbunchman@mcvh-vcu.edu

pcrrt@aol.com

www.pcrrt.com

in born error of metabolism
In Born Error of Metabolism
  • 2.9 kg infant presents at 48 hours of life with lethargy.
  • Child is afebrile, BP is 75/40, HR of 130 BPM, RR of 50 BPM
  • On exam “floppy” infant with poor neurologic tone
in born error of metabolism1
In Born Error of Metabolism
  • Normal laboratory data shows of
    • H/H of 15/45; Cr of 0.9 mg/dl (maternal) , K of 4.3 mq/dl, Ca of 9.5 mg/dl, Phos of 6.0 mg/dl (nl)
  • Abnormal laboratory data shows
    • CO2 of 14 mg/dl and a ammonia of 1533 micromls/l (nl < 40)
slide4

30 newborns at OBG:

OA 14 pts : 8 PA, 4 MMA, 1 HMG, 1 IVA

UCD 16 pts : 3 CPS, 4 OTC, 5 AL, 3 AS,1 HHH

Dionisi-Vici et al. J Inher Met Dis2003

slide5

“SMALL MOLECULES” DISEASES INDUCING

CONGENITAL HYPERAMMONEMIA.

  • INCIDENCE
  • Overall: 1:9160
  • Organic Acidurias: 1:21422
  • Urea Cycle Defects: 1:41506
  • Fatty Acids Oxidation Defects: 1:91599
  • AGE OF ONSET
  • Neonate: 40%
  • Infant: 30%
  • Child: 20%
  • Adult: 5-10% (?)Dionisi-Vici et al, J Pediatrics, 2002.
slide6

KEY POINTS FACING TO A HYPERAMMONEMIC

NEWBORN

  • hyperammonemia is extremely toxic to the brain (per se or through intracellular excess glutamine formation) causing astrocyte swelling, brain edema, coma, death or severe disability,

thus:

  • emergency treatment has to be started

even before having a precise diagnosis

since:

  • prognosis mainly depends on coma duration
slide7

PROGNOSIS OF HYPERAMMONEMIC COMA

IS DEPENDENT ON COMA DURATION.

from Msall M et al, N Eng J Med 1984.

slide8

TREATMENT of SEVERE

NEONATAL HYPERAMMONEMIA

IMMEDIATE

MEDICAL THERAPY

NO

RESPONSERESPONSE

DIALYSIS

MAINTAINANCE

MEDICAL THERAPY

+

REFEEDING

IMMEDIATE DIALYSIS

+ MEDICAL THERAPY

MAINTAINANCE

MEDICAL THERAPY

+

REFEEDING

?

slide9

Pharmacological treatment

before having a diagnosis

AIMS

precursorscatabolismanabolism

  • stop protein
  • caloric intake 100 kcal/kg
  • insulin …and
  • endogenous depuration
  • arginine 250 mg/Kg/2 hrs + 250 - 500 mg/Kg/day
  • carnitine 1g i.v. bolus 250 - 500 mg/Kg/day
  • vitamins (B12 1 mg,biotin 5-15 mg)
  • benzoate 250 mg/Kg/2 hrs + 250 mg/Kg/day or
  • peroral phenylbutyrate (only after UCD diagnosis)

Picca et al. Ped Nephrol 2001

slide10

urea

PD

CRRT

HD

time

ammonium?

generation rate

clearance

[C]

rrt intervention
RRT intervention
  • Child was electively intubated for airway protection
  • Foley catheter placed for use for urine collection and accurate I/O
  • Na Pheyacetate, Na Benzoate, Arginine Cl, Carnitine were all begun once urine and plasma amino and organic acids obtained.
rrt intervention1
RRT intervention
  • A 7 Fr 10 cm MedComp “softline” duel lumen vascular access placed
  • HD begun using a blood prime and a Phoenix (Gambro)
    • BRF of 70 mls/min (~ 22 mls/kg/min)
    • DFR of 500 mls/min with a physiologic K and Phos bath
  • Ammonia levels collected at 1 hr intervals
ammonia clearance
Ammonia Clearance

HD Begins

1800

HD Ends

1600

1400

1200

Ammonia (micromol/l)

1000

800

600

400

200

0

1

2

3

5

7

11

15

17

19

Time (hours)

rrt intervention2
RRT intervention
  • At 2 hours of HD the ammonia was ~ 200 micromls/l and HD was exchanged for CVVHDF (Gambro Prisma M 60 membrane) using the same vascular access
  • A blood prime bypass maneuver was performed
  • Replacement rate of 2 liters per hour and a dialysate rate of 1 liter per hour
  • (HD clearance was 30 l/hr now decreased to 3 l/hr)
ammonia clearance1
Ammonia Clearance

HD Begins

HF Ends

1800

HD Ends

1600

HF Begins

1400

1200

Ammonia (micromol/l)

1000

800

600

400

200

0

1

2

3

5

7

11

15

17

19

Time (hours)

rrt intervention3
RRT intervention
  • A few practical comments
  • Ammonia is non-osmolar so no risk of dialysate disequilibrium exists
  • In Born Error of metabolism infants appear to be polyuric so keeping them intubated and keeping them “wet” is important
slide17

PHARMACOLOGICAL

TREATMENT

DIAGNOSIS

NO RESPONSE

RESPONSE

RE-FEEDING

DIALYSIS

TREATMENT of NEONATAL HYPERAMMONEMIA

HOSPITALIZATION

slide18

PD patients

180

160

140

120

100

NH4p (percent of initial value)

80

60

40

20

0

0

5

10

15

20

25

Time (hours)

slide19

CAVHD patients

100

80

60

40

20

0

0

10

20

30

40

50

60

100

CVVHD patients

80

NH4p (percent of initial value)

60

40

20

0

0

10

20

30

40

50

60

HD patients

100

80

60

40

20

0

0

10

20

30

40

50

60

Picca et al. Ped Nephrol 2001

TIME (hours)

ammonium clearance and filtration fraction using different dialysis modalities
AMMONIUM CLEARANCE AND FILTRATION FRACTION USING DIFFERENT DIALYSIS MODALITIES.

Picca et al., 2001

drug clearance
Drug clearance
  • Where as ammonia is a small molecular wt compound Na Phenylacetate and Na Benzoate are also small, non protein bound
  • So will your therapy clear the drug?
conclusion
Conclusion
  • Hyperammonemia of the new born is a medical and dialytic emergency
  • Immediate institution of medical therapy is needed and a early decision of RRT institution is needed
conclusion1
Conclusion
  • PD has little to offer in this disease
  • HD is the preferred modality and prevention of the rebound can occur by transitioning HD to HF
  • With RRT monitor K and Phos closely to avoid loss of these electrolytes during the RRT