Hiperbilirrubinemias hereditarias: un diagnóstico diferencial a considerar en ictericia / Hereditary hiperbilirrubinemias: a differential diagnosis to considerer in icterus

Las hiperbilirrubinemias hereditarias (HBH) son patologías originadas por defectos en las enzimas y proteínas que participan del metabolismo de la bilirrubina. El clearence de bilirrubina incluye captación y almacenamiento en hepatocitos, conjugación, excreción hacia la bilis y recaptura de su forma conjugada por hepatocitos. Las HBH varían de acuerdo a su patogenia, presentación clínica, niveles de bilirrubinemia y tratamientos disponibles. En general son poco frecuentes, a excepción del Síndrome de Gilbert. Están las que son de predominio indirecto, como el Síndrome de Gilbert y el de Crigler-Najjar, y las de predominio directo, como el Síndrome de Dubin-Johnson y el de Rotor. En general no requieren tratamiento específico y tienen curso benigno, a excepción del Síndrome de Crigler-Najjar para el cual existen medidas terapéuticas específicas a considerar, teniendo un pronóstico reservado para algunas de sus formas de presentación. Es importante el conocimiento de estos síndromes dado el alto índice de sospecha requerido para su diagnóstico y para su diferenciación de otras patologías hepatobiliares de mayor riesgo y severidad.

Hereditary hiperbilirrubinemias (HBH) are pathologies originated from the defect of the enzymes and proteins involved in the metabolism of bilirubin. The bilirubin clearance includes uptake and storage in hepatocytes, conjugation, excretion into bile and recapture of its conjugated form by hepatocytes. HBH vary according to their pathogenesis, clinical presentation, levels of bilirubin and available treatments. Generally they are infrequent, except for Gilbert Syndrome. There are those with indirect bilirubin predominance, such as Gilbert and Crigler-Najjar syndromes, and those with direct bilirubin predominance, including Dubin-Johnson and Rotor syndromes. In general, they do not require specific treatment and have a benign course, with the exception of the Crigler-Najjar Syndrome, for which there are specific therapeutic measures to consider, as well as a reserved prognosis for some of their forms of presentation. The knowledge of these syndromes is important 2 given the high index of suspicion required for its diagnosis and for its differentiation from other hepatobiliary pathologies of greater risk and severity.

One case of Dubin-Johnson syndrome in laparoscopic cholecystectomy / 中华内分泌外科杂志

Dubin-Johnson syndrome (DJS) is an inherited disease as an autosomal recessive trait which the clinical presentation is jaundice,and is easy to be misdiagnosed.We reported one case of DJS for providing basis of clinical diagnosis.

Hepatectomía derecha extendida por colangiocarcinoma intrahepático en un paciente con síndrome de Dubin-Johnson / Hepatectomy for cholangiocarcinoma in one patient with Dubin Johnson syndrome

Dubin-Johnson syndrome (SDJ) is a rare benign autosomal recessive congenital disease that causes jaundice. We report a 71 years old male with a Dubin Jonson syndrome diagnosed at the age of 40. On a ultrasound examination and magnetic resonance imaging, a liver tumor was found, that was excised. The pathology report showed a cholangiocarcinoma. During the postoperative period, the patient had a hyperbilirubinemia that subsided slowly. There are reports of hyperbilirubinemia of difficult management after hepatectomy in patients with Dubin-Johnson syndrome.

El síndrome de Dubin-Johnson (SDJ) es una patología benigna, familiar, con carácter autosómico recesivo y de aparición poco frecuente. Consiste en un defecto en la excreción hepática de la bilirrubina conjugada que permite su entrada al canalículo biliar, manifestando un cuadro clínico de ictericia silente. La asociación de esta enfermedad con colangiocarcinoma intrahepático es excepcional, siendo difícil la sospecha precoz de este diagnóstico y también el manejo de la ictericia postoperatoria. El objetivo de este trabajo es describir un caso clínico con estas características y revisión de la literatura existente. Se presenta a un paciente de sexo masculino de 71 años de edad, con antecedente de síndrome de Dubin-Johnson diagnosticado a los 40 años. Asintomático, en exámenes de rutina se encuentra un tumor hepático en la ecotomografía abdominal, que luego se corrobora en la TAC y RNM, mide aproximadamente 10 cm de diámetro, de ubicación central y derecho. Resto de estudio no muestra diseminación. Se realiza laparoscopia diagnóstica y ecografía intraoperatoria confirmando lo visto por imágenes, y se decide convertir a laparotomía para efectuar hepatectomía derecha extendida. Biopsia rápida y diferida informan colangiocarcinoma. Evoluciona favorablemente en el postoperatorio, con hiperbilirrubinemia sostenida de lenta resolución. La asociación de hepatectomía con síndrome de Dubin-Johnson es de muy baja frecuencia, existiendo poca literatura al respecto. Se ha descrito que la hiperbilirrubinemia en el postoperatorio es de difícil manejo, sin embargo, en este caso el paciente evolucionó favorablemente sin necesidad de alguna terapia específica.

A case of Dubin-Johnson syndrome with a pigmented neurofibroma / 대한내과학회지

Clinically, Dubin-Johnson syndrome is characterized by mild icterus without specific symptoms or signs. The icterus is so mild that it is usually noted only during another illness, pregnancy, or the use of oral contraceptives. There is no pruritus in ubin-Johnson syndrome. The physical examination is usually normal, except for the icterus, although hepatosplenomegaly is seen occasionally. Histologically, the liver is normal, except for the presence of dense pigment making it appear black grossly. Pigmentation of tissues other than the liver in patients with Dubin-Johnson syndrome has been reported only in a few cases. We experienced a case of Dubin-Johnson syndrome with extrahepatic pigmentation in the skin with a neurofibroma in a 66-year-old man.

A case of Dubin-Johnson Syndrome / 영남의대학술지

Dubin-Johnson Syndrome is a form of benign, familial idiopathic jaundice presenting with chronic intermittentconjugated hyperbilirubinnmia and a melamin-like pigment has been found in the parenchymal liver cells. This disorder is rarely diagnosed in the neonatal period. We report a case of Dubin-Johnson syndrome presenting with neonatal cholestasis.

A case of Dubin-Johnson Syndrome / 영남의대학술지

Dubin-Johnson Syndrome is a form of benign, familial idiopathic jaundice presenting with chronic intermittentconjugated hyperbilirubinnmia and a melamin-like pigment has been found in the parenchymal liver cells. This disorder is rarely diagnosed in the neonatal period. We report a case of Dubin-Johnson syndrome presenting with neonatal cholestasis.

Familial non-hemolytic jaundice with conjugated and unconjugated hyperbilirubinemia

Ten jaundiced and sixty nine non-jaundiced members from two unrelated families were the subjects of this report. The jaundiced members showed qualitative and quantitative differences in the clinical and chemical expression of this disease. Excretory defects such as idiopathic hypercholesterolemia and asymptomatic PBI elevations were noted in jaundiced and non-jaundiced members. It was emphasized that this disease may manifest with various combinations of excretory defects for conjugated forms of bilirubin, iodopanoic acid (Telepaque), Bromsulfalein (BSP), liver pigment (? metanephrine glucuronide) and probably iodine and cholic acid. It was postulated that a protein carrier in the liver cytoplasma have binding sites for these substances. Variations of binding sites on these protein molecules result in different manifestations in affected members of a family or different families with this disease. It also show that they are not necessarily different syndromes. (Summary)

Melanosis coli--histochemical and immunohistochemical comparison of the pigments of melanosis coli and Dubin-Johnson syndrome

We compared the pigment of melanosis coli with the pigment of Dubin-Johnson syndrome, melanin, and lipofuscin. The pigment of melanosis coli appeared similar to lipofuscin in that it stained positively with periodic acid-Schiff, oil red-0 and Victoria blue stains and revealed negative reactions to the immunohistochemical stains for S-100 protein and neuron specific enolase, but had similarity to melanin as shown by the positive reaction to Fontana-Masson stain and negative autofluorescence. The pigment of Dubin-Johnson syndrome showed the same histochemical and immunohistochemical characteristics as that of melanosis coli. The results indicate that the pigments of melanosis coli and Dubin-Johnson syndrome are identical and are variants of lipofuscin.