BookJozef Rovenský, Tibor Urbánek, Boldišová Olʹga, James A. Gallagher, editors.
Summary: This book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory tract, its pathological anatomy and histology, as well as differential diagnosis. This is complemented by the latest data on therapy and experimental models of alkaptonuria, and supported by several case reports. Numerous pictures and radiological images document the clinical symptoms, giving the reader a solid understanding of the disease. On the basis of the editor?s and authors? own extensive observations, the book offers an analysis of protein metabolism and aromatic amino acids in the context of alkaptonuria. Written by international experts in the field, the book offers a valuable reference guide for healthcare professionals working in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.
Contents:
Introduction
Alkaptonuria and Ochronosis
History
Metabolism of Aromatic Amino Acids
Tyrosine Metabolism Disorders
Detection of Homogentisic Acid in Plasma and Urine
Alkaptonuria Genetics
Experimental Alkaptonuria in Animals
Experimental Models of Alkaptonuria and Ochronosis
Ochronotic Arthropathy
Clinical Manifestation of Ochronotic Arthropathy in the Spine
Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Spine
Clinical Manifestation of Ochronotic Arthropathy in the Peripheral Joints
Clinical and Ultrasound Evaluation of Enthesopathy in Alkaptonuria in the Romani Community
Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Area of the Peripheral Joints
Manifestations of Alkaptonuric Ochronosis in the Eye
Symptoms of Alkaptonuria and Ochronosis in the Ear
Manifestations of Alkaptonuria and Ochronosis in the Visceral Organs
Manifestations of Alkaptonuria and Ochronosis in the Respiratory Tract
Pathological Anatomy and Histology of Ochronosis
Cellular and Molecular Patholgenesis of Ochronosis
Picture of Synovial Effusion in Ochronosis
Coincidence of Alkaptonuric Ochronosis with Other Diseases
Differential Diagnosis of the Disease
Sine Syndromes in Alkaptonuria
History of Nitisinone (NTBC)
Case Reports
References.