There are three distinct types of<unk>  each with slightly different symptoms: nephropathic<unk> , intermediate<unk> , and non-nephropathic or ocular<unk> . Infants affected by nephropathic<unk>  initially exhibit poor growth and particular kidney problems (sometimes called renal Fanconi syndrome). The kidney problems lead to the loss of important minerals, salts, fluids, and other nutrients. The loss of nutrients not only impairs growth, but may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). Slit-lamp photographs of three-year-old patient with nephropathic<unk>  before (left) and after (right) cysteamine eyedrop therapy. The drops dissolve the crystals in the cornea. By about age two, cystine crystals may also be present in the cornea. The buildup of these crystals in the eye causes an increased sensitivity to light (photophobia). Without treatment, children with<unk>  are likely to experience complete kidney failure by about age ten. With treatment this may be delayed into the patients teens or 20s. Other signs and symptoms that may occur in patients include muscle deterioration, blindness, inability to swallow, impaired sweating, decreased hair and skin pigmentation, diabetes, and thyroid and nervous system problems. The signs and symptoms of intermediate<unk>  are the same as nephropathic<unk> , but they occur at a later age. Intermediate<unk>  typically begins to affect individuals around age twelve to fifteen. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate<unk>  is left untreated, complete kidney failure will occur, but usually not until the late teens to mid twenties. People with non-nephropathic or ocular<unk>  do not usually experience growth impairment or kidney malfunction. The only symptom is photophobia due to cystine crystals in the cornea. Crystal morphology and identification Cystine crystals are hexagonal in shape and are colorless. They are not found often in alkaline urine due to their high solubility. The colorless crystals can be difficult to distinguish from uric acid crystals which are also hexagonal. Under polarized examination, the crystals are birefringent with a polarization color interference.
Cystinosis
Xanthinuria
Iminoglycinuria
Chalicosis
Saccharopinuria
Isosthenuria
Onychauxis
Median nail dystrophy