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NTBC and Correction of Renal Dysfunction

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Hereditary Tyrosinemia

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 959))

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.

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Abbreviations

cGFR:

Calculated glomerular filtration rate

FAA:

Fumarylacetoacetate

Fah:

Fumarylacetoacetate hydrolase

HCC:

Hepatocellular carcinoma

HGA:

Homogentisic acid

Hpd:

Hydroxyphenylpyruvate dioxygenase

HT1:

Hereditary tyrosinemia type 1

MAA:

Maleylacetoacetate

OLT:

Orthotopic liver transplantation

SA:

Succinylacetone

SAA:

Succinyl acetoacetate

TRP:

Tubular reabsorption of phosphate

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Authors and Affiliations

  1. Metabolic Unit, Department of Pediatric Specialties, Bambino Gesù Children’s Research Hospital, Rome, Italy

    Arianna Maiorana & Carlo Dionisi-Vici

Authors
  1. Arianna Maiorana
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  2. Carlo Dionisi-Vici
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Correspondence to Arianna Maiorana .

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Editors and Affiliations

  1. Department of Molecular Biology, Medical Biochemistry and Pathology, Medical School, Université Laval, Québec, Québec, Canada

    Robert M. Tanguay

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Maiorana, A., Dionisi-Vici, C. (2017). NTBC and Correction of Renal Dysfunction. In: Tanguay, R. (eds) Hereditary Tyrosinemia. Advances in Experimental Medicine and Biology, vol 959. Springer, Cham. https://doi.org/10.1007/978-3-319-55780-9_8

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