1/8. Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up.alkaptonuria is an inherited metabolic disorder characterized by the absence of the enzyme homogentisic acid oxidase, which leads to the accumulation of homogentisic acid, produced during normal metabolism of phenylalanine and tyrosine. ochronosis, which is the dark pigmentation of connective tissues in patients with long-lasting alkaptonuria, can cause severe cartilage destruction in large joints and the vertebral column. knee joint involvement, which occurs at relatively early ages, can be quite restrictive. arthroplasty may be the treatment of choice in these patients because of limited mobility and diffuse involvement of the joint. We report a 48-year-old man who had been treated with cementless total knee arthroplasty. Theoretically, there are no bone ingrowth deficits that might be detrimental for the stabilization of cementless prostheses in ochronotic arthropathy because the bone tissue is not primarily affected by the disease. The 4-year follow-up of cementless total knee arthroplasty was satisfactory without any evidence of loosening.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
2/8. alkaptonuria: a case report.alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
3/8. Ochronotic arthropathy.Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. an uncommon inherited metabolic disorder associated with various clinical and radiologic abnormalities due to the deposition of homogentisic acid. We report on a 35-year-old man with ochronotic arthropathy who presented with the main characteristic radiological findings. The differential diagnosis of this rare condition is discussed with a review of the literature.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
4/8. Ochronotic arthritis: case reports and review of the literature.Alkoptunuria is an inherited autosomal recessive metabolic disorder which is caused by the lack of homogentisic acid-oxidase enzyme. It is associated with various systemic abnormalities and related to the deposition of homogentisic acid pigment in connective tissues. These pigmentary changes are termed "ochronosis". We describe two patients with ochronotic arthritis who presented with advanced degenerative changes in the lumbo-sacral spine, knee and hip. The literature, differential diagnosis and management of this rare condition are reviewed in this article.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
5/8. Alkaptonuric ochronosis: a case report.Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder resulting in a deficiency of homogentisic acid oxidase (alkaptonuria). Ultimately, this enzyme deficiency enables homogentisic acid to accumulate, become polymerized, and be systemically deposited within various tissues of the body (ochronosis). As the disease progresses, tissue deposition of polymerized homogentisic acid eventually will lead to the progressive degeneration of all affected body systems. There is no definitive cure for alkaptonuric ochronosis, and treatment is aimed at controlling and ameliorating symptoms. Multiple systemic complications occur as a result of alkaptonuric ochronosis. In the skeletal system, cervical, thoracic and lumbosacral degenerative disk disease develops, as do widespread arthritic changes in peripheral and weight-bearing joints. In the respiratory system, dyspnea can develop owing to limited chest excursion as a result of stiffening of cartilage in the chest wall. In the cardiovascular system, coronary and valvular calcification frequently occurs. In the genitourinary system, calculi formation and urine discoloration are chief manifestations. This case report describes a 63-year-old man with alkaptonuric ochronosis who sustained a stress fracture of the left femoral neck, necessitating surgical repair, which was done without complications. An overview of alkaptonuric ochronosis is presented, and anesthetic implications are discussed.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
6/8. Arthroscopic treatment of shoulder ochronotic arthropathy: a case report and review of literature.Alcaptonuria is an inherited hereditary metabolic disorder, which is associated with various systemic abnormalities and related to the accumulation of homogentisic acid and a derived melanine-like pigment in the connective tissues; the latter is termed ochronosis. We present the arthroscopic findings in the shoulder of a 58-year-old female with ochronotic arthropathy and discuss the role of arthroscopy in the diagnosis and management of this rare metabolic disorder.- - - - - - - - - - ranking = 2keywords = metabolic disorder (Clic here for more details about this article) |
7/8. ochronosis and lumbar disc herniation.alkaptonuria is a rare, autosomal recessive metabolic disorder in which the homogentisic acid oxidase activity is absent. Its incidence is as low as 0.001%. ochronosis is the pigmentation of connective tissues and this pigmentation leads to degenerative changes in alkaptonuric patients.alkaptonuria most prominently involves the lumbar region, but lumbar disc herniation as the presenting feature of alkaptonuria is not common. Only a few patients required surgical intervention.Herewith we report an alkaptonuric patient, who was operated on for lumbar disc herniation. His discectomy material was black and the metabolic disorder was diagnosed retrospectively.This metabolic disease is often recognized on physical re-examination after the black disc material was seen during the operation. Therefore urinalysis for homogentisic acid should be performed in all patients with degenerative changes of the vertebral column. The results of disc surgery in this patient group is successful.- - - - - - - - - - ranking = 2keywords = metabolic disorder (Clic here for more details about this article) |
8/8. Ochronotic arthropathy: rapid destructive hip osteoarthritis associated with metabolic disease.ochronosis is a musculoskeletal manifestation of alkaptonuria, an inherited metabolic disorder associated with various systemic abnormalities related to the deposition of homogentisic acid pigment in connective tissues. This report describes a 58-year-old woman with ochronotic arthropathy who, in addition to the typical clinical features of the disorder, presented with rapidly progressive hip osteoarthritis. The destruction of the joint architecture and the severe functional impairment necessitated a total hip replacement which resulted in a satisfactory outcome.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |