Hepatorenal Tyrosinemia in Mexico: A Call to Action

Ibarra-González, Isabel; Ridaura‐Sanz, Cecilia; Fernández-Lainez, Cynthia; Guillén-López, Sara; Belmont-Martínez, Leticia; Vela-Amieva, Marcela

doi:10.1007/978-3-319-55780-9_14

Cited by 10 publications

(13 citation statements)

References 19 publications

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“…The rate is significantly higher than in pre-nitisinone reports ( 8) but comparable to the reported 6-year survival rate of HT1 in Mexico (60%) (16). With nitisinone therapy, higher rates of 85% and 100% are reported in the Turkish and French series, respectively (21,29), transient interruption of the treatment due to lack of health insurance coverage is common in developing countries (17). Several studies have shown that nitisinone interruption can lead to higher mortality rate in HT1 by HCC (20), in addition to triggering neurological crisis (30), rapid deterioration (31,32) and death.…”

Section: Discussionsupporting

confidence: 60%

“…Few reports on the outcome of HT1 from Arab countries are available, mainly from Egypt (12), Saudi Arabia (13), Tunisia (14), and Sudan (15). Furthermore, some developing countries, like Mexico (16,17), still struggle to diagnose early HT1 patients and offer them nitisinone, an expensive lifelong medical therapy. The aim of this study is to report the diagnostic and therapeutic challenges of a series of HT1 patients and their outcome over a 12-year-period, in a tertiary care center in Lebanon.…”

Section: Introductionmentioning

confidence: 99%

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Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

et al. 2021

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Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities. Nowadays, early diagnosis and therapy with nitisinone can reverse the clinical picture. In developing countries, diagnostic and therapeutic challenges may affect the outcome of this disease. The choice of the treatment modality may depend on the economic status of each country. Few reports on the long-term outcome of hereditary tyrosinemia type 1 are available from developing and Arab countries.Methods: A retrospective study of charts of Lebanese patients diagnosed with tyrosinemia type 1 and followed, at the American University of Beirut, during a 12-year period was performed. Clinical presentation and liver biochemical profile at diagnosis were analyzed, along with therapeutic modalities and long-term outcome.Results: Twenty-two children were diagnosed and followed during the study period. Median age at diagnosis was 7 months (range: one day to 35 months). Most of the patients presented with hepatomegaly and jaundice. Four patients were referred for atypical presentations with developmental delay and seizures, secondary to undiagnosed hypoglycemia episodes. Around half of the patients presented with failure to thrive. Transaminitis, cholestasis and increased α-fetoprotein level were variably present at diagnosis (36% to 50%). All patients had elevated plasma tyrosine and urinary succinylacetone levels. Genetic testing was performed in 9%. Only one third could be treated with nitisinone. Liver transplant was electively performed in 9% of cases, to overcome the long-term cost of nitisinone. One third of the patients died between the age of 1 month and 11 years. Surviving patients are still candidates for liver transplant.Conclusion: Our experience reflects the challenges of diagnosis and treatment of hereditary tyrosinemia type 1 in a developing country. In the absence of specific neonatal screening, early diagnosis relies mostly on the clinical awareness of the physician. Long-term nitisinone use may be deterred by its high cost and liver transplantation carries risks of surgical complications. New, effective, and less expensive treatments are needed, especially for developing countries.

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Section: Discussionsupporting

confidence: 60%

Section: Introductionmentioning

confidence: 99%

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

et al. 2021

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“…Also, a small percentage of infants was diagnosed with tyrosinemia, a treatable metabolic disease with heterogeneous symptoms including progressive liver failure, renal damage and pronounced coagulopathy. Today, expanded newborn screening, based on succinylacetone quantification has been very valuable in the early detection of hepatorenal tyrosinemia, providing the opportunity for rapid treatment of affected patients (17). This report highlighted the importance of neonatal screening for detecting treatable causes of IC.…”

Section: Discussionmentioning

confidence: 95%

Frequency of Different Causes of Infant Cholestasis in a Tertiary Referral Center in South-East Iran

2018

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Objectives: This study reports frequency of different causes of infant cholestasis diagnosed by clinical and biochemical parameters as well as liver biopsy. Methods: Cholestasis persisting beyond two-weeks of age in 46 infants less than 6 months old was evaluated. A checklist including signs and symptoms, as well as laboratory, imaging and liver biopsy results was prepared. According to diagnosis, patients were classified into two groups: biliary atresia (BA) and non-biliary atresia (Non-BA) and results were compared between two groups. P value < 0.05 was considered significant. Results: Forty six infants (25 girls, 21 boys) with cholestasis and mean age of 65 ± 99 days were included in the study. Most of the infants (42%) were referred at the age of > 91 days. The most common symptoms and signs were jaundice in 100% followed by hepatomegaly (78%), splenomegaly (52%), acholic stool (35%) and dark urine (37%). There were no significant differences between the two groups for age, gender, onset of jaundice and organomegaly. Patients in BA group experienced more acholic stool, abnormal AST, ALT and bilirubin (P < 0.05). The most common underlying causes of liver disease in study group were BA (30.4%) and idiopathic neonatal hepatitis (INH) in 30.4% followed by metabolic disorders. Conclusions: Sixty one percent of infants with cholestasis in present study had BA and INH. A systemic approach is the key for rapid diagnosis to rule out BA and other treatable disorders for a better outcome.

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“…In this study group, we also found that 7/10 older siblings had a diagnostic odyssey, and they were frequently misdiagnosed with unspecified motor and intellectual disability (Table 3). This situation is common in low-income countries and has been described for several IEMs [35][36][37]. Thus, training physicians in IEMs and in neurodevelopmental skills is imperative in order to favor early detection of patients and to prevent or ameliorate health damage.…”

Section: Discussionmentioning

confidence: 99%

Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico

Ibarra-González

Fernández-Lainez

Guillén-López

et al. 2021

J. inborn errors metab. screen.

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Introduction: Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services. Aim: To present the experience of studying older siblings of patients with inborn errors of metabolism (IEM) identified by NBS in a single-national follow-up reference center. Methods: A retrospective analysis of medical files of the IEM patients detected by NBS was conducted. All those older siblings who tested positive for the same IEM of the patient detected by newborn screening were included. Results: A total of 26 positive siblings from 18 families with seven different IEM were found (phenylketonuria, argininemia, glucose-6-phosphate dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, dihydropteridine reductase deficiency, tyrosinemia type 3, and medium chain acyl-CoA dehydrogenase deficiency). The age range of the affected siblings was 2 to 19 years old, with a mean age of 8.5 years. Ten older siblings (38.5%) had clinical consequences for the disease, including severe intellectual disability. Conclusions: It is necessary to study older siblings, and family history and genetic counseling of all NBS-detected families should be recommended, especially in countries where expanded NBS programs are beginning.

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Hepatorenal Tyrosinemia in Mexico: A Call to Action

Cited by 10 publications

References 19 publications

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

Frequency of Different Causes of Infant Cholestasis in a Tertiary Referral Center in South-East Iran

Importance of Studying Older Siblings of Patients Identified by Newborn Screening: a Single-Center Experience in Mexico

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