Clinical features of nephropathic cystinosis in adult patients

Chebotareva N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University

Tsygin A.: Scientific Medical Center of Children Health

Tao E.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Maltseva V.: Scientific Medical Center of Children Health

Savostyanov K.: National Medical Research Center for Children's Health, Moscow, Russia

Pushkov A.: National Medical Research Center for Children's Health, Moscow, Russia

Moiseev A.: Sechenov First Moscow State Medical University

Bulanov N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Moiseev S.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

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Summary

Aim

To evaluate clinical signs and symptoms of nephropathic cystinosis in adult patients.

Material and methods

In a retrospective study, were cruited consecutive adult (17 years and older) patients with nephropathic cystinosis verified by genetic testing. We studied demographic and clinical characterstics including gender, age at disease onset and initiation of kidney replacement therapy, extrarenal manifestations, treatment with cysteamine.

Results

Seven patients aged 17 to 36 years (median 19 years) with nephropathic cystinosis diagnosed at the age of 2 to 24 years (median 7 years) were enrolled in our study. Corneal cystine cristalls deposits were found in all patients. Nephropathic cystinosis manifested by Fanconi syndrome and progressive impairment of kidney function (up to the age of 15 years all patients underwent kidney transplantation). Extrarenal manifestation included growth delay in 6 patients, hypothyroidism in 4, diabetes mellitus in 2, brain disease in 1 and acute coronary syndrome in 1. All patients were treated with cysteamine that was initiated at the age of 2 to 29 years (median 11 years).

Conclusion

Nephropathic cystinosis should be suspected in all patients who initiate kidney replacement therapy in childhood or adolescence, particulary with a history of Fanconi syndrome.

Key words

Nephropathic cystinosis, Fanconi syndrome, kidney replacement therapy, cysteamine.