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Hereditary Tyrosinemia

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Cover of 'Hereditary Tyrosinemia'

Table of Contents

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    Book Overview
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    Chapter 1 Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean
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    Chapter 2 Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1
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    Chapter 3 Molecular Aspects of the FAH Mutations Involved in HT1 Disease
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    Chapter 4 Molecular Pathogenesis of Liver Injury in Hereditary Tyrosinemia 1
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    Chapter 5 Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
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    Chapter 6 The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec
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    Chapter 7 Liver Transplantation for Hereditary Tyrosinaemia Type 1 in the United Kingdom
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    Chapter 8 NTBC and Correction of Renal Dysfunction
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    Chapter 9 Liver Cancer in Tyrosinemia Type 1
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    Chapter 10 Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
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    Chapter 11 Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening
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    Chapter 12 Tyrosinemia Type I in Japan: A Report of Five Cases
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    Chapter 13 Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update
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    Chapter 14 Hepatorenal Tyrosinemia in Mexico: A Call to Action
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    Chapter 15 Hereditary Tyrosinemia Type 1 in Turkey
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    Chapter 16 From Weed Killer to Wonder Drug
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    Chapter 17 The Québec NTBC Study
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    Chapter 18 Dietary Considerations in Tyrosinemia Type I
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    Chapter 19 Remaining Challenges in the Treatment of Tyrosinemia from the Clinician’s Viewpoint
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    Chapter 20 Fah Knockout Animals as Models for Therapeutic Liver Repopulation
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    Chapter 21 Gene Therapy in Tyrosinemia: Potential and Pitfalls
Attention for Chapter 8: NTBC and Correction of Renal Dysfunction
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Chapter title
NTBC and Correction of Renal Dysfunction
Chapter number 8
Book title
Hereditary Tyrosinemia
Published in
Advances in experimental medicine and biology, January 2017
DOI 10.1007/978-3-319-55780-9_8
Pubmed ID
Book ISBNs
978-3-31-955779-3, 978-3-31-955780-9
Authors

Arianna Maiorana, Carlo Dionisi-Vici

Abstract

Hereditary tyrosinemia type 1 (HT1) is characterized by severe progressive liver disease and renal tubular dysfunction. Kidney involvement is characterized by hypophosphatemic rickets and Fanconi syndrome. Different animal models were useful to investigate the pathophysiology of the disease and the effects of NTBC therapy on liver and kidney function. NTBC has revolutionized the prognosis of HT1 and its acute and chronic effects on renal tubular function have been proved, with normalization of tubular function within a few weeks, particularly hypophosphatemia and proteinuria. NTBC therapy is highly effective in improving renal function both at short and long-term. However, its efficacy critically depends on the age at start of treatment with normal outcome in patients diagnosed at birth by newborn screening.

Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 3 33%
Student > Master 2 22%
Researcher 2 22%
Professor > Associate Professor 1 11%
Unknown 1 11%
Readers by discipline Count As %
Medicine and Dentistry 6 67%
Agricultural and Biological Sciences 1 11%
Nursing and Health Professions 1 11%
Unknown 1 11%