Anesthetic management of two patients with alkaptonuric ochronosis for total knee arthroplasty

Kozanhan, Betül

doi:10.1016/j.bjane.2016.07.015

Cited by 1 publication

(1 citation statement)

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“…Physiotherapy, which is aimed at maintaining mobility and reducing the rate of musculoskeletal decline has been utilised [13]. Pain management is frequently administered, although the delivery of any analgesia can be impacted due to the ochronosis of tissues, particularly when considering the spine and shoulders [14][15][16][17][18]. Due to the lack of a disease modifying therapy, ultimately, multiple joint replacements are needed [19][20][21].…”

Section: Potential Therapiesmentioning

confidence: 99%

The potential of nitisinone for the treatment of alkaptonuria

Taylor

Shepherd

2019

Expert Opinion on Orphan Drugs

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Introduction: Alkaptonuria is an iconic disease, dating back to the Egyptians and has continued to prove a valuable teaching tool to many medics as an example of an inborn error of metabolism. In recent years, much progress has been made on understanding the condition and its symptoms; the single defective gene has been identified and cloned. In humans novel phenotypic presentations of the condition have been documented, and in vitro models developed to understand the disease. Furthermore, a mouse model has studied and most recently clinical trials into the effectiveness of nitisinone have been undertaken. Nitisinone has been on a miraculous journey from its discovery as a weed killer to its effective treatment in hereditary tyrosinaemia type-1. Areas covered: The authors describe research into nitisinone and its application in model and human systems in both hereditary tyrosinaemia type 1 (HTT-1) and Alkaptonuria. The published literature was searched for outputs relating to "Alkaptonuria", "ochronosis", "nitisinone", "hereditary tyrosinaemia type 1". Any paper not in English or had no translation were excluded. Expert opinion: Now nitisinone is being studied for use in Alkaptonuria and this paper documents the journey of AKU and the promising potential of nitisinone in the treatment of Alkaptonuria.

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