No way out for waste

Lysosomes are the cell’s waste disposal system and are used for the digestion of macromolecules. Sometimes because of a genetic defect, they don’t work very well and compounds accumulate inside the lysosome causing diseases caused lysosomal storage disorders.

One such disorder is cystinosis where cystine, an amino acid, builds up in various organs in the body such as the kidney, eye, muscle, pancreas and brain.

Young patients may develop kidney problem early in life which results in important nutrients being lost in their urine. Later in life they may require a kidney transplant. They may also have sight problems because of the formation of cystine crystals in their eyes.

Recently, advances have been made in the treatment of some of these types of disease. Patients may receive an exact functioning copy of the human form of the enzyme they are missing or a protein that will help them remove the waste product accumulating in the lysosome. These patients will be managed by a multi-disciplinary team of specialist doctors and other healthcare professionals throughout their lives.

If this is an area of work that interests you, you can find out more about the members of these multi-disciplinary teams below, which may include:

  • speciailist clinical scientist – suggesting and performing the specialist investigations used to diagnose and monitor such conditions.
  • clinical molecular geneticist – identifying the mutation causing the disease and assisting in family studies to help identify carriers of the genetic fault.
  • specialist dietitian – helping to ensure that the patient gets appropriate nutrition and calories, and in some cases managing the special diets that are used to treat some inherited disorders such as phenylketonuria.
  • pharmacist – managing the patient’s drug and replacement therapy, ensuring that they are formulated, delivered and stored correctly.
  • nurse specialist – coordinating the actual infusion of some of the enzyme replacement therapies and liaising with family members.
  • clinical psychologist – helping the patients to deal with some of the challenges they may face with their disorders.
  • An opthalmologist – monitoring the patient’s eyes for signs of disease progression.
  • genetic counsellor – assisting the family to understand the disease and the rik of reoccurrence of the disorder in future pregnancies.
  • clinical research associate – monitoring the clinical trials if the treatment being used is a new drug that has been introduced or trialled.
  • physiotherapist – providing special treatments and exercise regimes to maintain mobility and in some cases lung function.
  • An occupational therapist – helping the patient to perform certain tasks in daily life.