Ann Pediatr Endocrinol Metab.  2016 Sep;21(3):174-178. 10.6065/apem.2016.21.3.174.

Endocrine complications during and after adolescence in a patient with cystinosis

• Ahn MB
• Kim SE
• Cho WK
• Jung MH
• Suh BK

• KMID: 2366795
• DOI: http://doi.org/10.6065/apem.2016.21.3.174

Abstract

Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a 12-year-old boy with short stature, general weakness, and photophobia. The diagnosis was confirmed based on ophthalmic findings and biochemical analyses (serum leukocyte cystine measurement). Major endocrine manifestations at diagnosis included hypothyroidism, growth retardation, and hypogonadism. Despite oral cysteamine administration and renal replacement therapy, multiple complications including both endocrine and nonendocrine disorders developed during and after adolescence. In this report, we review the presenting features and factors related to the long-term complications in a patient with cystinosis.

Keyword

Cystinosis; Cystine; Cysteamine; Lysosomal storage diseases

MeSH Terms

Adolescent*
Child
Cysteamine
Cystine
Cystinosis*
Diagnosis
Humans
Hypogonadism
Hypothyroidism
Korea
Leukocytes
Lysosomal Storage Diseases
Male
Photophobia
Rare Diseases
Renal Replacement Therapy
Cysteamine
Cystine

Figure

• 

  Fig. 1 A growth chart demonstrating poor growth velocity.

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  Fig. 2 (A) A plain chest radiograph demonstrating severe scoliosis and renal osteodystrophy at the age of 22 years and (B) a plain radiograph of left hand demonstrating fusion of all epiphyses with bilateral subperiosteal resorption of the phalanges.

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  Fig. 3 Moderate edematous cornea with diffuse microbullae (arrows) and multiple crystalline deposits. OD, oculus dexter.

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