LIVER TRANSPLANTATION IN CRIGLER-NAJJAR SYNDROME A Case Report

Wolff, Hans; Otto, G.; Giest, Henning

doi:10.1097/00007890-198607000-00018

Cited by 28 publications

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“…The similarity between all type II patients is that symptoms are less severe than in type I and that usually no treatment is needed. However, patients have been described who could not be classified by the existing criteria, CN type II patients with bilirubin-induced neurological damage have been reported (30,31) and a patient has been described who could not be classified at all (32).…”

Section: Resultsmentioning

confidence: 99%

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Bosma²,

et al. 1994

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Crigler-Najjar (CN) Kinetic constants for the glucuronidation of bilirubin were determined. The affinities for bilirubin of B-UGT1 expressed in COS cells and B-UGT from human liver microsomes were similar with Km of 5.1±0.9 ,uM and 7.9±5.3 ,uM, respectively. B-UGT1 from patient B had a tenfold decreased affinity for bilirubin, Km = 56±23 ,LM.At physiological concentrations of bilirubin both type II patients will have a strongly reduced conjugation capacity, whereas type I patients have no B-UGT activity. We conclude that CN type I is caused by a complete absence of functional B-UGT and that in CN type II B-UGT activity is reduced. (J. Clin. Invest. 1994Invest. .94:2385Invest. -2391

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Section: Resultsmentioning

confidence: 99%

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Bosma²,

et al. 1994

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“…Not unexpectedly, neurologic sequelae observed are irreversible despite the subsequent correction of hyperbilirubinemia through transplantation. 8,30,37,40 The patterns of neurologic sequelae reflect the long noted predilection of particular areas such as the basal ganglia and cerebellum to the toxic effects of hyperbilirubinemia. In addition, cognitive decline, reflecting perhaps the observed vulnerability of the hippocampus in pathologic models, is often seen in the older individual.…”

Section: Discussionmentioning

confidence: 99%

Neurologic Perspectives of Crigler-Najjar Syndrome Type I

1998

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Limited information exists on the neurologic sequelae of Crigler-Najjar syndrome type I despite this being the major morbidity of this rare autosomal recessive disorder of bilirubin conjugation that results in chronic unconjugated hyperbilirubinemia. Two patients with identical underlying genetic mutations resulting in Crigler-Najjar syndrome type I were assessed from a neurodevelopmental perspective in late childhood using age appropriate standardized measures. In addition, the English language literature of case reports and series describing the outcomes of patients with this disorder was reviewed (descriptive meta-analysis) and summarized with particular reference to neurologic symptomatology, pattern of neurologic disability, age of onset of symptoms, and therapeutic interventions. Despite radically different therapeutic interventions, our two patients did not differ in outcome measures. Review of the literature reveals distinct, often age-related, patterns of neurologic sequelae reflecting injury to basal ganglia, cerebellar, and likely hippocampal structures. Definitive prevention of the neurologic sequelae that often occur within the context of Crigler-Najjar syndrome type I requires that curative treatment (hepatic transplantation, presently, and gene therapy in the future) be applied prior to the possible onset of neurologic symptoms in adolescence.

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“…Liver transplantation has been performed successfully in humans for the treatment of congenital metabolic diseases [8). However, many transplant candidates, especially children, do not get the benefits of liver transplantation because of a serious donor shortage.…”

Section: Discussionmentioning

confidence: 99%

Hepatic support by hepatocyte transplantation in congenitally metabolic diseased rats

Nozawa

Ikebukuro

Otsu

et al. 1992

Transplant International

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Nagase analbuminemic rats (NAR), which lack albumin synthesis in the liver, underwent intrasplenic hepatocyte transplantation (HCTx), and the long-term effects were studied using functional and morphological examinations. Hepatocytes were isolated from congenic ~44 rats with collagenase infusion, and 1 x 10 7 cells were llljected into the spleen of 3-month-old NAR (n = 10). ~erum albumin increased with time, reaching 53.9 mg/dl 4 months after HCTx, which was equivalent to 2.1% (maximum 4%) of serum albumin in normal rats. On the other hand, untreated NAR showed persistently low serum albumin levels (0.99 ± 0.23 mg/dl at 10 months).According to immunostaining with anti-rat albumin antib?dy at 16 months after HCTx, hepatocyte grafts occu-Pie~ 27-41% of the spleen area and weighed 120-420 mg, Whtch was equivalent to 0.8-2.9% of a whole liver. Our study demonstrated that grafted hepatocytes can grow in ~e spl.een with the ability to synthesize albumin. HCTx in . AR IS a new experimental system to monitor the func-t~on a~d survival of grafted heptocytes without sacrificing t e ~ntmals by measuring serum albumin levels. Certain mampulations to facilitate the growth of grafted hepatotes are necessary to achieve sufficient hepatic support in CTx.

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LIVER TRANSPLANTATION IN CRIGLER-NAJJAR SYNDROME A Case Report

Cited by 28 publications

References 0 publications

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Neurologic Perspectives of Crigler-Najjar Syndrome Type I

Hepatic support by hepatocyte transplantation in congenitally metabolic diseased rats

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