• BY Dr. Rajeev's Clinic
  • 31-Jan-2023


Cystinosis, most often transmitted via autosomal recessive inheritance, is the most common cause of Fanconi syndrome in children and results from mutations in the CTNS gene, which encodes the cystine transporter.


There are three types of cystinosis: adult, adolescent, and infantile.

  • The adult form is characterized by ocular cystinosis without renal involve- ment.
  • In the adolescent and infantile types, cystine accumulation in lysosomes causes cell death in numerous organs, including the kidneys.
  • The infantile type is most common and the most severe.


Characteristically, children present in the first or early second year of life with Fanconi syndrome, polyuria and polydipsia, and failure to thrive. If left untreated, ESRD is reached by 7-10 years of age in the infantile form. When- ever the diagnosis of cystinosis is suspected, slit-lamp exami- nation of the corneas should be performed.

Cystine crystal deposition causes an almost pathognomonic ground-glass "dazzle" appearance. Increased white blood cell cystine levels are diagnostic.

COMPLIATIONS which include

  • Fanconi syndrome with salt-wasting
  • Functional nephrogenic diabetes insipidus (NDI),
  • Proximal RTA,
  • Hypophosphatemic rickets,
  • Eventual progression to ESRD,
  • Hypothyroidism
  • Ocular cystinosis with eventual blindness,
  • Neurologic deterioration.


Homoeopathic treatment requires a deep constitutional analysis. The history of the disease, the family medical history, physical and mental characteristics of the patient, the likes and dislikes, medication details are all taken into consideration. This approach stands in consonance with the homoeopathic convention. Well selected Homoeopathic remedies are effective for CYSTINOSIS treatment.