Percorsi clinici
Coma e insufficienza epatica
COMA AND LIVER INSUFFICIENCY
Massimiliano Don1, Federico Marchetti2, Patrizia Salierno2, Annamartina Franzil2, Massimo Maschio2, Bruno Sacher1,
Alberto Burlina3, Alessandro Ventura2
1UOC di Pediatria, PO “Sant’Antonio”, San Daniele del Friuli, Udine
2Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste
3Genetica Clinica, Dipartimento di Pediatria, Università di Padova
Dicembre 2008 - pagg. 671 -677
Abstract
The work describes the case of a two-and-half-year-old girl who showed a clinical picture of neurologic impairment together with laboratory signs of liver insufficiency coupled with hyperammonemia. Some comments on this clinical case and how the diagnosis of ornithine transcarbamylase deficiency was reached are reported. The aim was to deepen the aetiology and the methodological approach to the pediatric non-traumatic coma and to summarize the urea cycle disorders (UCD) that are the most common inborn errors of metabolism
causing hyperammonemia, also in the light of the novelties regarding the improvement
of survival after its medical treatment. An enzymatic defect of this metabolic
pathway results in the accumulation of serum ammonia and glutamate that are responsible of the symptoms, which range from mild cognitive deficit to deep coma and may vary in severity from fatal neonatal hyperammonemia to asymptomatic adults. The conservative treatment consists of protein-restricted diet and alternative pathway medications, such sodium benzoate and sodium phenylacetate. In case of failure, dialysis and liver transplantation are the other possible choices. Indications on and problems arising from the latter invasive option are discussed, too.
Classificazione MeSH
Bibliografia
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2. Di Carlo JV, Frankel LR. Neurologic stabilization. In: Nelson 17th edition, pg. 308-12.
3. The Multi-Society Task Force on PVS. Medical aspects of the persistent vegetative state: Second of two parts. N Engl J Med 1994;330:1572- 9.
4. Kirkham FJ. Non-traumatic coma in children. Arch Dis Child 2001;85:303-12.
5. Shih VE. Alternative-pathway therapy for hyperammonemia. N Engl J Med 2007;356:2321- 22.
6. Rezvani I. Urea cycle and hyperammonemia (Arginine, Citrulline, Ornithine). In: Nelson 17th edition, pg. 424-9.
7. Zschocke J, Hoffmann GF. Disturbi da detossificazione dell’ammonio: difetti del ciclo dell’urea. In: Burlina A. (Ed it a cur di). Vademecum metabolico. Manuale pediatrico di malattie metaboliche ereditarie. Edizioni Medico Scientifiche, pg. 57-62.
8. Brusilow SW, Valle DL, Batshaw M. New pathways of nitrogen excretion in inborn errors of urea syntesis. Lancet 1979;2:452-4.
9. Brusilow S, Tinker J, Batshaw ML. Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea syntesis. Science 1980;207:659-61.
10. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for ureacycle disorders. N Engl J Med 2007;356:2282- 92.
11. Rezvani I. An approach to inborn errors of metabolism. In: Nelson 17th edition, pg. 397-8.
12. Ventura A. La pagina gialla. Rare, difficili, ma da riconoscere in tempo. Medico e Bambino 2007;26:417-8.
13. Morioka D, Kasahara M, Takada Y, et al. Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide english literature and 13 cases at Kyoto University. Liver Transpl 2005;11:1332- 42.
14. McDiarmid SV, Merion RM, Dykstra DM, Harper AM. Selection fo pediatric candidates under the PELD system. Liver Transpl 2004; 10:S23-S30.
Corrispondenza: max.don@libero.it