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NTBC and Correction of Renal Dysfunction

  • Arianna MaioranaEmail author
  • Carlo Dionisi-Vici
Chapter
Part of the Advances in Experimental Medicine and Biology book series (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.

Keywords

Renal tubular dysfunction Rickets Fanconi syndrome NTBC therapy 

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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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Metabolic Unit, Department of Pediatric SpecialtiesBambino Gesù Children’s Research HospitalRomeItaly

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