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.

TYPES:

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

• The adult form is characterized by ocular cystinosis without renal involvement.
• 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.

SYMPTOMS:

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. Whenever 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:  

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.

SARSAPARILLA: Passage of small calculi or gravel, renal colic, stone in the bladder. Excruciating pains from right kidney downwards. Severe almost unbearable pain at conclusion of urination. Urine bloody, scanty, slimy, flaky, sandy, copious, passed without sensation, deposits white sand. Painful distension & tenderness in bladder, urine dribbles while sitting, passes freely when standing.

CANTHARIS: Constant urging to urinate, passing but a few drops at a time, which is mixed with blood. Intolerable urging before, during & after urination. Violent paroxysms of cutting & burning in whole renal region. Violent tenesmus & strangury. Urine scalds him & is passed drop by drop. Membranous scales looking like bran in water. Urine jelly like, shredy. Pain raw, sore, burning in every part, internally & externally. Over sensitiveness of all parts. Drinking even small quantities of water increases pain in bladder.

SEPIA - Red adhesive sand in urine. Chronic cystitis, slow micturition with bearing down sensation above pubes. > by violent exercise, warm application. Involuntary urination during first sleep. Urine highly offensive, must be removed from the room. Pains from other parts to back, attended with shuddering. Sensation of ball in inner parts. Weeps easily, indifference to those loved best.