Benign Cystinosis

Benign Cystinosis

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Eye & Vision
Kids' Zone
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Contributed byKrish Tangella MD, MBAJan 13, 2022

The topic Benign Cystinosis you are seeking is a synonym, or alternative name, or is closely related to the medical condition Cystinosis.

Quick Summary:

  • Cystinosis is a rare genetic disorder that is caused by mutations in the CTNS gene. This gene codes for the protein cystinosin, which is responsible for mobilizing the amino acid cystine from lysosomes. Lysosomes are the cellular waste-disposal and recycling organelles
  • When the protein is dysfunctional, cystine accumulates in the lysosomes. The symptoms of Cystinosis results from the accumulation of cystine crystals in cells of different tissues and organs
  • Cystinosis affects multiple body systems and organs. The signs and symptoms can include progressive kidney damage (Fanconi syndrome in infants), nutritional deficiencies of amino acids and essential minerals (lost through urine), growth retardation, enlarged liver and spleen, delayed puberty, lack of secondary sexual growth, and infertility
  • There are 3 types of Cystinosis:
    • Nephropathic Cystinosis: It is the most severe form with an onset during infancy
    • Intermediate Cystinosis: Although the symptoms are similar to the nephropathic type, the progression is much slower. The age of onset typically ranges from 8 years to adolescence
    • Non-Nephropathic or Ocular Cystinosis: It is considered a “benign” form of Cystinosis. The age of onset, though variable, is generally during mid-adulthood
  • A family history of Cystinosis is a major risk factor for children being born with Cystinosis. The condition is inherited in an autosomal recessive pattern, in which an individual must have two defective copies of the causative gene for manifestation of the condition
  • A diagnosis of Cystinosis can be made prenatally, if there is a known family history of the condition. After birth, a diagnosis of Cystinosis may require physical examination, symptom assessment, evaluation of family history, urine and blood tests, and other tests and examinations as needed
  • Some potential complications of Cystinosis include kidney failure and hypothyroidism in both infants and young children. There can be accumulation of cystine in the muscles and organs, such as the liver and pancreas, if the condition is left untreated. This can lead to gastrointestinal tract malfunction, high blood pressure, and memory loss (in the form of dementia)
  • The treatment options for Cystinosis include medication and surgery. Cysteamine is an oral medication, which depletes cystine from the cells; it has been found to be effective in slowing the progression of the condition. In case of end-stage renal failure, a kidney transplantation may be recommended
  • Since Cystinosis is a genetic condition, there are currently no methods or guidelines available for prevention of the condition. Expecting parents with a family history of the condition may benefit from genetic counseling
  • The prognosis of Cystinosis is reported to have improved in the past several decades. Earlier, the disorder was generally fatal; however, through medical advancements, the affected individuals are able to lead better lives, with an increased life expectancy (up to 50 years)

Please find comprehensive information on Cystinosis regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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