A disorder affecting the absorption of amino acids, resulting in excessive amounts of cystine accumulating in the kidneys.
An inborn defect in the absorption and metabolism of amino acids, leading to abnormal accumulation of the amino acid cystine in the blood, kidneys, and lymphatic system. Excess excretion of cystine in the urine (cystinuria) leads to the formation of cystine stones in the kidneys.
A rare, autosomal recessive disorder, one of the lysosomal storage diseases, that results in the deposition of cystine crystals in body tissues. Affected children develop growth failure, rickets, renal tubular acidosis, hypothyroidism, and kidney failure, often followed by lung disease, sexual dysfunction, and neurological disorders.
A hereditary condition distinguished by the accumulation of a specific amino acid named cystine within the organism. This results in atypical quantities of carbohydrates and amino acids being present in the urine, along with heightened frequency of urination, and diminished levels of potassium and phosphates in the bloodstream.
An uncommon genetic disorder entails the abnormal accumulation of the amino acid cystine within cells throughout the body. This distinctive condition highlights the significance of addressing the underlying metabolic dysfunction and its potential impact on various organs and systems. Comprehensive understanding and management of this disorder are crucial in ensuring optimal health and well-being for individuals affected by it.
The onset of the juvenile variant of cystinosis becomes evident within the initial year of life, during which cystine accumulations cause harm to the eyes, leading to visual impairment. Furthermore, these deposits pose a significant risk of potentially life-threatening kidney failure. Recognizing the early signs and symptoms of cystinosis and implementing appropriate interventions are vital in mitigating the detrimental effects on vision and renal function, ensuring optimal outcomes for affected individuals.
In the adult variant of cystinosis, characterized by a milder presentation, the primary symptoms primarily manifest as ocular issues, notably extreme sensitivity to light. Unlike the pediatric form, the kidneys are far less susceptible to impairment in adults. Recognizing the distinctive clinical features of cystinosis in adults, particularly the ocular manifestations, facilitates early detection and appropriate management to optimize visual health and overall well-being in affected individuals.