[Crigler-Najjar syndrome: diagnosis and treatment]. / Síndrome de Crigler-Najjar: diagnóstico y tratamiento.

INTRODUCTION: Crigler-Najjar syndrome (CNS) is a very rare disease characterized by severe indirect hyperbilirubinemia from birth with normal liver function. It may cause kernicterus at any age. This disease is due to a total or partial deficiency of the UDP-glucuronosyltransferase enzyme caused by a mutation of the five exons of the ULT1A1 gene. PATIENTS AND METHODS: We reviewed the clinical outcomes of 7 children diagnosed with CNS between 1987 and 2004. RESULTS: There were three boys and four girls (two of which were homozygote twins). Two children had familial consanguinity. Three out of the six families had another healthy child. The mean follow-up was 8.3 years (14 months-17 years). In all patients, jaundice was detected in the first 3 days of life. The children were admitted to hospital between the fourth and the sixtieth day of life with jaundice and indirect bilirubin levels of between 12.5 and 32 mg/dl. In all patients, hemolysis was ruled out and hepatic function was normal. The diagnosis was based on genetic study in 4 patients, on inactive UGT enzyme in liver in 1 patient, and on clinical features exclusively in 2 patients. Treatment consisted of phenobarbital and phototherapy from 8 to 16 hours a day in all patients except three. Associated calcium salts were found in 5 patients and cholestyramine was found in two. Two patients developed kernicterus. Two underwent liver transplantation and bilirubin levels became normal. The remaining patients maintained indirect bilirubin from 15 to 25 mg/dl with no associated neurological alterations. CONCLUSIONS: Patients with CNS are at greater risk of developing kernicterus, mostly associated with indirect bilirubin levels of around 25 mg/dl. Phototherapy is very useful in these patients but the only definitive treatment is liver transplantation.

Síndrome de Crigler-Najjar: diagnóstico y tratamiento / Crigler-Najjar syndrome: diagnosis and treatment

Introducción El síndrome de Crigler-Najjar (SCN) es una entidad infrecuente, caracterizada por hiperbilirrubinemia indirecta grave desde el nacimiento con función hepática normal, y que puede ocasionar querníctero a cualquier edad. Se debe a un déficit total o parcial de la enzima UDP-glucuroniltransferasa (UGT) causado por mutaciones en los exones del gen UGT1A1. Pacientes y métodos Se revisa la evolución de 7 niños, diagnosticados de SCN, de 1987 a 2004. Resultados Los pacientes son 3 niños y 4 niñas, dos de ellas gemelas homozigotas. En 2 familias existía consanguinidad y en tres los hermanos eran sanos; el resto eran hijos únicos. El seguimiento medio fue de 8,3 años (14 meses-17 años). La ictericia fue detectada en todos en los primeros 3 días de vida. El ingreso que motivó la sospecha diagnóstica ocurrió entre el día 4 y el 60 con cifras de bilirrubina indirecta (BI) de entre 12,5 y 32 mg/dl. En todos se descartó hemólisis y la función hepática fue normal. El diagnóstico se basó en un estudio genético de 4 casos, en determinación de 0 % de la actividad de la enzima UGT en hígado en uno y en criterios clínicos exclusivamente en los dos restantes. El tratamiento consistió en fenobarbital y fototerapia de 8 a 16 h diarias en todos excepto en tres. En 5 casos se asociaron sales de calcio y en dos colestiramina. Un total de 2 pacientes desarrollaron querníctero durante la evolución; 2 niños fueron trasplantados con normalización del metabolismo de la bilirrubina. El resto presentaron cifras de BI de entre 15 y 25 mg/dl sin desarrollar alteraciones neurológicas. Conclusiones El principal riesgo de los pacientes con SCN es el desarrollo de querníctero, sobre todo con cifras de BI en torno a 25 mg/dl. La fototerapia es útil en el control de estos pacientes. El trasplante hepático es el único tratamiento definitivo

Introduction Crigler-Najjar syndrome (CNS) is a very rare disease characterized by severe indirect hyperbilirubinemia from birth with normal liver function. It may cause kernicterus at any age. This disease is due to a total or partial deficiency of the UDP-glucuronosyltransferase enzyme caused by a mutation of the five exons of the ULT1A1 gene. Patients and methods We reviewed the clinical outcomes of 7 children diagnosed with CNS between 1987 and 2004. Results There were three boys and four girls (two of which were homozygote twins). Two children had familial consanguinity. Three out of the six families had another healthy child. The mean follow-up was 8.3 years (14 months-17 years). In all patients, jaundice was detected in the first 3 days of life. The children were admitted to hospital between the fourth and the sixtieth day of life with jaundice and indirect bilirubin levels of between 12.5 and 32 mg/dl. In all patients, hemolysis was ruled out and hepatic function was normal. The diagnosis was based on genetic study in 4 patients, on inactive UGT enzyme in liver in 1 patient, and on clinical features exclusively in 2 patients. Treatment consisted of phenobarbital and phototherapy from 8 to 16 hours a day in all patients except three. Associated calcium salts were found in 5 patients and cholestyramine was found in two. Two patients developed kernicterus. Two underwent liver transplantation and bilirubin levels became normal. The remaining patients maintained indirect bilirubin from 15 to 25 mg/dl with no associated neurological alterations. Conclusions Patients with CNS are at greater risk of developing kernicterus, mostly associated with indirect bilirubin levels of around 25 mg/dl. Phototherapy is very useful in these patients but the only definitive treatment is liver transplantation

Tumores vasculares hepáticos / Vascular liver tumors

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Trasplante hepático pediátrico: indicaciones, técnicas quirúrgicas, complicaciones y tratamiento / Pediatric liver transplantation. Indications, surgical techniques, complications and treatment

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Síndrome de Guillain-Barré después de trasplante hepático pediátrico / Guillain-Barré syndrome after pediatric liver transplantation

La presentación de un síndrome de Guillain-Barré en el postoperatorio inmediato de un trasplante de órganos sólidos en niños es un hecho infrecuente. La patogenia de estos casos se ha explicado generalmente por la presencia de infección por alguno de los agentes tradicionalmente implicados en la aparición del síndrome (citomegalovirus, Campylobacter jejuni).Presentamos un caso de síndrome de Guillain-Barré en un receptor de trasplante hepático, en el que no se encontró ninguno de los factores descritos habitualmente como inductores del mismo, y revisamos los aspectos etiopatogénicos y clinicoterapéuticos de este síndrome (AU)