Nephropathic Infantile Cystinosis

Introduction Nephropathic cystinosis is an atypical genetic lysomal storage disorder distinguished by a destruction of the transfer of amino acid cystine from the lysosomes. Lysosomes are responsible for breaking down unwanted materials into cellular substances, and when cystine accumulates it crystallizes in the lysosomes of the cells and progresses to harm multiple tissues and organs of the body. The intent of this paper is to inform the importance of taking medication to reduce the surplus of cystine into the body’s system. Recognizing signs and symptoms and properly diagnosing is a key factor in treating this disorder. Individuals with infantile cystinosis experience both tubular dysfunction (renal Fanconi syndrome) and glomeralular deterioration. The renal Fanconi Syndrome usually occurs within the first year of life. Glomeralular deterioration progresses throughout the first decade of life, resulting in end-stage renal failure unless patients are treated with cysteamine (The importance of early diagnosis of nephropathic cystinosis to limit tissue and organ damage by treating it with specific medication, and if left untreated patient can develop renal failure by the age of 10. The prevalence of the infantile form of cystinosis transpires in 1 in 100,000 – 200,000 live births and in the North American population there is a carrier frequency of 1 in every 200. Europeans from the United Kingdom, France, and Germany have a higher prevalence of infantile cystinosis. Cystinosis is prone to but not limited to European descendants with blue eyes, fair skinned and pale blond hair (Rahkeja, Wooten &et al, 2005). Without treatment, infantile cystinosis can lead to advancement of renal failure that requires dialysis or renal transplant by approximately 10 years of age. A kidney