Liver transplantation in a case of argininaemia

Silva, Ermelinda Santos; Martins, Esmeralda; Cardoso, Maria Luı́s; Barbot, Clara; Vilarinho, Laura; Medina, Margarida

doi:10.1023/a:1013960712516

Cited by 15 publications

(5 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In period A, molecular studies were performed in three patients with galactosemia, one with argininemia ( 29 ), and one with MacCune-Albright syndrome ( 30 ), previously reported. In period B, molecular studies were performed in patients with Alagille syndrome and some metabolic diseases ( 27 ).…”

Section: Resultsmentioning

confidence: 99%

“…Time lag between admission and etiological diagnosis was significantly longer than in patients who did not undergo genetic testing [23 days (IQ: 3-91) vs. 6 days (IQ: 4-11), p = 0.011]. In period A, molecular studies were performed in three patients with galactosemia, one with argininemia (29), and one with MacCune-Albright syndrome (30), previously reported. In period B, molecular studies were performed in patients with Alagille syndrome and some metabolic diseases (27).…”

Section: Contribution Of Molecular Studiesmentioning

confidence: 94%

See 1 more Smart Citation

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center

et al. 2020

View full text Add to dashboard Cite

Introduction: In the last two decades there have been advances in the diagnosis and management of neonatal cholestasis, which may have changed its epidemiology, diagnostic accuracy, outcomes, and survival. Our goal was to characterize these changes over time in our setting. Methods: Retrospective cohort study in a tertiary center, enrolling patients born between January 1985 and October 2019. The cohort was divided into two periods, before (A; n = 67) and after (B; n = 87) the year 2000; and in two groups, according to patient's outcome (favorable, unfavorable). Overall survival and survival with and without orthotopic liver transplant (OLT) were evaluated in the two periods (A and B) and in different subgroups of underlying entities. Results: We found that the age of cholestasis recognition decreased significantly from period A to period B [median 43 days and 22 days, respectively, (p < 0.001)]; the changes in epidemiology were relevant, with a significant decrease in alpha-1-antitrypsin deficiency (p < 0.001) and an increase in transient cholestasis (p = 0.004). A next-generation sequencing (NGS) panel available since mid-2017 was applied to 13 patients with contributory results in 7, but, so far, only in 2 patients led to conclusive diagnosis of underlying entities. The number of cases of idiopathic cholestasis did not vary significantly. Over time there was no significant change in the outcome (p = 0.116). Overall survival and survival without OLT had no significant improvement during the period of observation (in periods A and B, 86 vs. 88%, and 85 vs. 87%, respectively). However, in period B, with OLT we achieved the goal of 100% of survival rate. Conclusions: Our data suggest that transient cholestasis became a very important subset of neonatal cholestasis, requiring specific guidance. The NGS panels can provide Santos Silva et al. Neonatal Cholestasis Over Time important inputs on disease diagnosis but, if applied without strict criteria and expertise, they can open a Pandora's box due to misinterpretation. Despite all the advances in accurate diagnosis and timely management-including early recognition of cholestasis-the improvement in patient outcomes and survival were still not significant. Keywords: neonatal cholestasis, transient cholestasis, neonatal cholestasis epidemiology, cholestasis risk factors, neonatal cholestasis survival, next generation sequencing panel NGS panel evolution Mid-2017 (54 genes) Since the end of 2019 (95 genes) Genes ABCB11,

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Contribution Of Molecular Studiesmentioning

confidence: 94%

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Although dietary management may be therapeutic, better modalities to normalise arginine levels, the suspected culprit in causing the neurological symptoms, is needed in ARG1 deficiency. Liver transplantation is another option and has been reported in two patients with ARG1 deficiency, both with good results although it may not reverse the initial brain injury [27, 28]. Life-long treatment with diet may still be needed to keep arginine levels low.…”

Section: Discussionmentioning

confidence: 99%

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

Jain-Ghai

Nagamani

Blasér

et al. 2011

Molecular Genetics and Metabolism

View full text Add to dashboard Cite

Enzyme defects of the urea cycle typically present with significant hyperammonemia and its associated toxicity, in the first few months of life. However, arginase I (ARG1) deficiency, a rare autosomal recessive disorder, has classically been the exception. ARG1 deficiency usually presents later in life with spasticity, seizures, failure to thrive and developmental regression. Neonatal and early infantile presentation of ARG1 deficiency with severe hyperammonemia remains rare and only six such cases have been described We report a severely affected infant with ARG1 deficiency who presented at 6 weeks of age with lethargy, poor feeding and severe encephalopathy caused by hyperammonemia. The clinical and biochemical features of the proband and six other previously reported cases with neonatal or infantile-onset presentation of ARG1 deficiency with hyperammonemia are reviewed. In addition, the clinical spectrum of seven previously unpublished patients with later onset ARG1 deficiency, who also experienced recurrent hyperammonemia, is presented. Several biochemical abnormalities have been postulated to play a role in the pathogenesis of the neurological changes in ARG1 deficiency including hyperargininemia, elevated guanidino compounds and elevated glutamine levels, as well as the hyperammonemia. The index case demonstrated many of these. The cases reviewed here suggest a genotype/phenotype correlation and advocate for the addition of arginine as a primary target in newborn screening programs.

show abstract

“…LT, however, in general will not revert preexisting neurological damage . LT has been performed during acute encephalopathy and/or acute liver failure, which are high risk situations requiring case‐by‐case discussions of the need to transplant.…”

Section: Liver Transplantation For Ucd Patientsmentioning

confidence: 99%

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Häberle

Burlina²,

Chakrapani

et al. 2019

J of Inher Metab Disea

334

478

View full text Add to dashboard Cite

In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectual disability or death, even while effective therapies do exist. In the 7 years increased awareness among health professionals and patient families. However, underrecognition and delayed diagnosis of UCDs still appear widespread. It was therefore necessary to revise the original guidelines to ensure an up-to-date frame of reference for professionals and patients as well as for awareness campaigns. This was accomplished by keeping the original spirit of providing a trans-European consensus based on robust evidence (scored with GRADE methodology), involving professionals on UCDs from nine countries in preparing this consensus. We believe this revised guideline, which has been reviewed by several societies that are involved in the management of UCDs, will have a positive impact on the outcomes of patients by establishing common standards, and spreading and harmonizing good practices. It may also promote the identification of knowledge voids to be filled by future research.

show abstract

Liver transplantation in a case of argininaemia

Cited by 15 publications

References 2 publications

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center

Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Contact Info

Product

Resources

About