is a rare autosomal recessive metabolic disease 1 that characterized by cystine
accumulation inside lysosome because of a defect in the transport system of cystine
are three types of cystinosis which are as follows 3:
Infantile nephropathic cystinosis: it is the severe and most common type which,
makes infant to suffer from symptoms and
signs of Fanconi syndrome during the first year of their life.
Juvenile nephropathic cystinosis: it presents with proteinuria and a mild form
of Fanconi syndrome.
Ocular cystinosis: this type is rare before adulthood 1 and it is characterized
by cystine deposition in the cornea and conjunctiva.
cause of all types of cystinosis is by CTNS write the detail of the abbreviation in the
first time gene mutation on the short-arm of chromosome number 17. Furthermore,
it is being mentioned in the literatures that more than 80 mutations are present
4. The prevalence is 1 in 100,000 – 200,000 5 and the highest prevalence was
found among the Pakistani group who lives in the west of the United Kingdom which
is 1 in 3600 6.
the first year of their life, the patients with infantile type present with polyuria,
polydipsia, vitamin D resistance rickets, and hypochloremic metabolic acidosis 7.
Moreover, during the second year, they develop cystine deposition in the cornea
8, and at the end of the first decade, 75% of them develop hypothyroidism and
pancreatic dysfunction 9. Subsequently, in the second or third decades, the
child has normal intelligence 10, 11 and they may develop cerebral atrophy during
the older lifetime 12. Additionally, few of them suffers with hypopigmentation,
blue eyes, blond hair 13, heat intolerance 14, craves for spicy and salty
food 15. Finally, a severe form of failure to thrive is the cardinal feature
of infantile cystinosis 16.
followings are diagnostic methods:
level in the Leukocyte which is the gold standard 17.
crystallization by corneal examination under slit lamp 18.
analysis searching for CTNS gene 19.
investigation of chorionic villous tissue or amniotic fluid 20.
management is mostly supportive. Moreover, cysteamine (oral or eye drop) is the
specific treatment for lowering intralysosomal cystine 21. Although the life-span
of the patients will be prolonged by the usage of cysteamine, they will suffer from
significant problems. Additionally, the study of S. Cherqui 22 showed with
treatments mean survival age of 28 years. Hematopoietic stem cell
transplantation may be the next step for the treatment of cystinosis in the
purpose of our study was to evaluate the clinical presentations and outcome ? mortality
and morbidity ? of infantile nephropathic cystinosis among patients seen in the
Department of Chronic Diseases in Sulaimani Pediatric Teaching Hospital.