Cystinosis
Cystinosis Causes
Cystinosis is caused by the inheritance of an autosomal recessive genes, with both parent act as carrier of the defective genes.
Cystinosis Definition
Cystinosis is categorized as an inherited disorder that affects chromosome 17, under which the amino acid cystine is not properly transported out of the patient's body cells. This would cause organ and tissue all damage throughout the body and may begin to manifest at any age, affecting both male and female. This mutated gene CTNS is an autosomal recessive, which means both parents are carrier of this gene resulting to the child to inherit to defective gene copies.
Cystinosis Diagnosis
Diagnosis of cystinosis is typically confirmed by cystine level measurement in blood cells. Other blood tests are conducted to check for the imbalances in sodium and potassium, as well as the level of cystine in the urine. Kidney sample and eye examinations are also performed.
Cystinosis Symptoms and Signs
Symptoms for Cystinosis would normally depend on the severity of the disease that would typically include photophobia, loss of appetite, changes in the retina, short stature, as well as impaired kidneys.
Cystinosis Treatment
The drug cysteamine (Cystagon) effectively helps eliminate the presence of cystine from the patient's body. While this drug may not be able to reverse the damage already done, it can prevent or slow down further damage from occurring. Cysteamine is considered as a highly beneficial to patient's cystinosis, especially when medication is started early in life. To cure impaired kinder function, mineral supplements are usually required such as potassium, phosphate, sodium and vitamin D.