[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.

[Alpha 1-antitrypsin deficiency with histologic expression of metabolic disease of carbohydrates]. / Déficit de alpha-1-antitripsina con expresividad histológica de enfermedad metabólica de hidratos de carbono.

A two months old male affected by alpha-1-AT PiZZ deficiency with severe transient neonatal cholestasis is presented. Two hepatic biopsies were practiced in neonatal period. There was no evidence of PAS positive globules, but an intense univacuolar steatosis and a rossetoid transformation of hepatocytes were observed. Both findings are identical to those found in the histopathologic study of the liver in certain metabolic diseases such as fructosemia and galactosemia. A third biopsy practiced at an age of two years confirmed diagnosis of alpha-1-AT deficit since presence of PAS positive globules was established. It must be pointed out that histopathological findings show great variability among different patients with alpha-1-AT deficit in the neonatal period, as well as the infrequent presence of PAS positive globules in hepatic biopsies of those c during the first months of life.

[Indications and selection of candidates for liver transplants in children]. / Indicaciones y selección de candidatos a trasplante hepático en niños.

Liver transplantation in children offers a therapeutic alternative for severe liver disease. Post-transplantation five-year survival reaches 76%. At the moment this technique must be indicated as a controversial subject, which requires considering both the severity of liver disease and scarcity of donors, with unpredictable waiting time. We report our experience after the study of 57 children selected for liver transplant. Their diagnosis, clinical and functional stage, situations considered as contraindications, and pre-transplantation management aimed at supporting candidates during waiting time and to diminish avoidable risks after surgery, is described. During waiting time, 15.9% of the patients died. Post-transplantation actuarial survival in our center is 63.6% (January 1986 to November 1988). Survival has markedly improved, reaching 81%, in the last 23 months in relation to a prophylactic approach of cytomegalovirus disease and performance of retransplantation in cases of severe graft dysfunction.

[The current state of Niemann-Pick disease: evaluation of six cases]. / Estado actual de la enfermedad de Niemann-Pick: valoración de seis casos.

Six pediatric patients with Niemann-Pick disease are reported. They have been studied at Hepatology Unit HI "La Paz" (Madrid) in the period of time between 1975-1988. They are one case of type A, one case of type B and four cases of type C. This group of pediatric patients serve us to make a revision of the disease attending to clinical and biochemical classification aspects, diagnosis and treatment. We insist on two aspects: 1) greater importance of enzymatic diagnose for the "Niemann-Pick complex", in view of the overlapping of clinical symptoms, 2) bone-marrow transplantation as therapeutic alternative and its indications.

[Chronic hepatitis caused by B virus and glomerulonephritis in children]. / Hepatitis crónica por virus B y glomerulonefritis en niños.

Eight children with chronic HBV hepatitis and glomerular disease were studied. There were seven males and one female, with ages between one and nine years old. Three had CPH and five CAH. All patients with CPH had membranous nephropathy, and those with CAH three had MNG. one membranoproliferative glomerulonephritis and one mesangial glomerulonephritis. Only six patients had moderate liver enlargement. In all, the diagnosis of HBV infection was performed by investigation of the etiology of their nephropathy. Liver function test showed signs of moderate necrobiosis with impaired biliary acid metabolism. All were HBsAg (+), antiHBc (+), six were antiHBe (+) and two were HBeAg (+). In one case renal deposit of HBsAg was found. Due to the frequent association of HBsAg and glomerulonephritis (GN) in children, an investigation of liver function is highly recommended in those patients with GN a HBV infection.