The differential diagnosis of Crigler—Najjar disease, types 1 and 2, by bile pigment analysis

Sinaasappel, M.; Jansen, Petér L. M.

doi:10.1016/0016-5085(91)80026-6

Cited by 54 publications

(27 citation statements)

References 19 publications

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“…A clinical description of both patients was given in [22], where the patients were designated 8 (patient A), and 9 (patient B). This study was approved by the medical ethical committee of the hospital.…”

Section: Patientsmentioning

confidence: 99%

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A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP‐glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler‐Najjar type IIs

et al. 1996

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Crigler-Najjar (CN) disease is caused by a deficiency of the hepatic enzyme, bilirubin UDP-glucuronosyltransferase (B-UGT). We have found two CN type II patients, who were homozygous for a leucine to arginine transition at position 15 of B-UGT1. This mutation is expected to disrupt the hydrophobic core of the signal peptide of B-UGT1. Wild type and mutant B-UGT cDNAs were transfected in COS cells. Mutant and wild type mRNA were formed in equal amounts. The mutant protein was expressed with 0.5% efficiency, as compared to wild type. Mutant and wild type mRNAs were translated in vitro. Wild type transferase is processed by microsomes, no processing of the mutant protein was observed.

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Section: Patientsmentioning

confidence: 99%

“…Bile of both patients was analyzed with HPLC to determine the presence of bilirubin conjugates [22]. Bile of patient A contained 49% bilirubin monoglucuronide and 10% bilirubin diglucuronide, bile of patient B contained 27% monoglucuronide and 14% diglucuronide.…”

Section: Patientsmentioning

confidence: 99%

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP‐glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler‐Najjar type IIs

et al. 1996

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“…Se presenta como hiperbilirrubinemia indirecta con pruebas hepáticas normales y sin signos de hemólisis 4 . En el SCN tipo I la bilirrubina indirecta (BI) supera los 20 mg/dl, casi no hay bilirrubina directa en la bilis y la respuesta al tratamiento con inductores de la enzima UDP-GT como el fenobarbital es casi nula 5 . Su principal complicación es el kernicterus 2 , entidad anátomo-patológica caracterizada por necrosis en los ganglios de la base, hipocampo, núcleo cerebeloso y sustancia gris, producido por el paso de BI no unida a albúmina a través de la barrera hematoencefálica y su posterior depósito, alterando el metabolismo celular 4 .…”

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Evolución prolongada en síndrome de Crigler-Najjar tipo I

Besa¹,

Calvo²,

Harris³

2014

Rev. méd. Chile

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“…traces of bilirubin conjugates. 6,7 Kernicterus is a complication Phototherapy, although initially very effective, is so-that can also develop later in life.1,8,9 CNS type 2 is less secially inconvenient and becomes less efficient in the vere, with serum bilirubin values usually not exceeding 350 older age group, thus also decreasing compliance. Cur-mmol/L.…”

mentioning

confidence: 99%

“…traces of bilirubin conjugates. 6,7 Kernicterus is a complication Phototherapy, although initially very effective, is so-that can also develop later in life.…”

mentioning

confidence: 99%

Current Therapy for Crigler–Najjar Syndrome Type 1: Report of A World Registry

Veere¹,

Sinaasappel²,

McDonagh³

et al. 1996

Hepatology

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which reliable administration of phototherapy cannot This study represents a multicenter survey on the be guaranteed. (HEPATOLOGY 1996;24:311-315.) management of patients with Crigler-Najjar syndrome (CNS) type 1. The aim of the survey was to find guiding principles for physicians in the care of these patients. Fifty-seven patients were included. At the time of incluCrigler-Najjar syndrome (CNS) is characterized by unconsion, 21 patients had received a liver transplant (37%). jugated hyperbilirubinemia since birth.1 CNS type 1 results The average age at transplantation was 9.1 { 6.9 years from a complete deficiency of the enzyme bilirubin UDP-(range, 1-23 years); the age of the patients who had not glucuronosyltransferase (UGT), and CNS type 2 results from been transplanted at the time of inclusion was 6.9 { 6.0 a partial deficiency. Bilirubin UGT is a member of the UGT years (range, 0-23 years). Brain damage had developed family, a group of enzymes encoded by the UGT1 and UGT2 in 15 patients (26%). Five patients died, and 10 are alive genes on human chromosomes 2 and 4. UGTs are located in with some degree of mental or physical handicap. In 2 the endoplasmic reticulum of the hepatocyte. UGT isoforms patients, ages 22 and 23 years, early signs of bilirubin are present in various other organs such as intestine, kidney, encephalopathy could be reversed, in 1 by prompt medi-lungs, and adrenals. 3-5 The after retransplantation, 2 improved neurologically, and first report was in 1952 by Crigler and Najjar.1 Before the 4 remained neurologically impaired. The age of 8 pa-advent of phototherapy, the disease was lethal, with death tients with and 13 without brain damage at or before occurring by the age of 15 months. transplantation was 14.3 { 5.9 and 5.9 { 5.4 years (P In CNS type 1, serum bilirubin values of untreated patients õ .01), respectively. Therapy of CNS type 1 consists of are in excess of 350 mmol/L, and bile contains not more than phototherapy (12 h/d), followed by liver transplantation. traces of bilirubin conjugates. 6,7 Kernicterus is a complication Phototherapy, although initially very effective, is so-that can also develop later in life.1,8,9 CNS type 2 is less secially inconvenient and becomes less efficient in the vere, with serum bilirubin values usually not exceeding 350 older age group, thus also decreasing compliance. Cur-mmol/L. The bile of these patients contains bilirubin monorently, liver transplantation is the only effective ther-and diglucuronides in low concentration.6,7 Their serum biliapy. This survey shows that, in a significant number of rubin responds to phenobarbital treatment with a decrease patients, liver transplantation is performed after some by 30% or more.10 Genetically, both diseases result from muform of brain damage has already occurred. From this, tations in the exons of the UGT1 gene.2 CNS types 1 and one must conclude that liver transplantation should be 2 are autosomal recessive diseases because both alleles are performed at a young age, particularly in situations in aff...

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The differential diagnosis of Crigler—Najjar disease, types 1 and 2, by bile pigment analysis

Cited by 54 publications

References 19 publications

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP‐glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler‐Najjar type IIs

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP‐glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler‐Najjar type IIs

Evolución prolongada en síndrome de Crigler-Najjar tipo I

Current Therapy for Crigler–Najjar Syndrome Type 1: Report of A World Registry

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