Cystinosis
Description
Cystinosis is a rare genetic disorder that affects the body‘s ability to process cystine, an amino acid. This leads to a buildup of cystine crystals in various organs, particularly the kidneys, eyes, and brain, causing significant health issues. This blog delves into the complexities of cystinosis, covering its signs and symptoms, causes, inheritance patterns, diagnosis, management strategies, and how individuals with cystinosis can thrive.
Genes Involved
Cystinosis is caused by mutations in the CTNS gene, which provides instructions for making a protein called cystinosin. This protein helps transport cystine out of cells. Mutations in this gene disrupt this process, leading to cystine accumulation.
Recognizing the Signs and Symptoms
Cystinosis symptoms vary depending on the age of onset and severity. Common signs include:
- Infancy: Frequent urination, excessive thirst, slow growth, and failure to thrive.
- Childhood: Kidney failure, eye problems like corneal clouding, and bone weakening.
- Adolescence: Muscle weakness, nerve damage, and potential for seizures.
Causes
Cystinosis is caused by a genetic mutation that affects the CTNS gene. This gene provides instructions for making a protein called cystinosin, which is crucial for transporting cystine out of cells. Mutations in this gene lead to a deficiency in cystinosin, causing cystine to build up in cells and organs.
Inheritance/recurrence risk
Cystinosis is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the disorder. If both parents are carriers, there is a 25% chance for each pregnancy that their child will inherit cystinosis.
