title: Histological and Ultrastructural Characterization of Alkaptonuric Tissues.
abstract: Alkaptonuria (AKU) is a hereditary disorder that results from altered structure and function of homogentisate 1,2 dioxygenase (HGD). This enzyme, predominantly produced by liver and kidney, is responsible for the breakdown of homogentisic acid (HGA), an intermediate in the tyrosine degradation pathway. A deficient HGD activity causes HGA levels to rise systemically. The disease is clinically characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and joint arthropathy. Additional manifestations are cardiovascular abnormalities, renal, urethral and prostate calculi and scleral and ear involvement. While the radiological aspect of ochronotic spondyloarthropathy is known, there are only few data regarding an exhaustive ultrastructural and histologic study of different tissues in AKU. Moreover, an in-depth analysis of tissues from patients of different ages, having varied symptoms, is currently lacking. A complete microscopic and ultrastructural analysis of different AKU tissues, coming from six differently aged patients, is here presented thus significantly contributing to a more comprehensive knowledge of this ultra-rare pathology.
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.
authors.forename: Lia
authors.initials: L
authors.lastname: Millucci
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Bernardini
authors.affiliation: Immunoematologia Trasfusionale, Azienda Ospedaliera Universitaria Senese, Viale Bracci, Siena, Italy.
authors.forename: Adriano
authors.initials: A
authors.lastname: Spreafico
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Orlandini
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Braconi
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Laschi
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Geminiani
authors.affiliation: Dipartimento di Scienze della Vita, Università degli Studi di Siena, via A. Moro 2, Siena, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Lupetti
authors.affiliation: Dipartimento di Scienze Fisiche, della Terra e dell'Ambiente, Università degli Studi di Siena, Strada Laterina 8, Siena, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Giorgetti
authors.affiliation: Dipartimento di Scienze Fisiche, della Terra e dell'Ambiente, Università degli Studi di Siena, Strada Laterina 8, Siena, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Viti
authors.affiliation: Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze, Università degli Studi di Siena, Viale Bracci, Siena, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Frediani
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.|U. O. C. Patologia Clinica, Azienda Ospedaliera Universitaria Senese, Viale Bracci, Siena, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Marzocchi
authors.affiliation: Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy. annalisa.santucci@unisi.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Santucci
mesh_terms: D000328:Adult; D000368:Aged; D000474:Alkaptonuria / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000209:etiology / Q000473:pathology
keywords: Alkaptonuria; Amyloidosis; Histology; Tissues