Short Stature in Patients with Diamond-Blackfan Anemia: A Cross-Sectional Study.

Abstract

OBJECTIVE\nTo systematically describe the short stature of patients with Diamond-Blackfan anemia and to explore factors affecting the height development of patients with DBA.\n\n\nSTUDY DESIGN\nThis cross-sectional study was conducted at the Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College (IHCAMS), and the height, weight and clinical data of 129 patients with DBA were collected from 06/2020-09/2020.\n\n\nRESULTS\nThe median height-age-Z score (HAZ) of children affected by DBA was -1.54 (-6.36∼1.96). Short stature was found in 37.98% of the patients. Specific DBA growth curves were developed for weight, height and BMI, separately for males and females. Multivariable logistic regression models showed that female sex (adjusted OR=4.92; 95% CI, 1.29∼18.71; P = .0195), underweight (adjusted OR=10.41, 95% CI, 1.41∼76.98, P =0.0217), cardiovascular malformations (adjusted OR=216.65;95% CI, 3.29∼14279.79; p=0.0118) and RPL11(adjusted OR=29.14;95%CI, 1.18∼719.10; p=0.0392) or RPS26 (adjusted OR=53.49;95% CI, 1.40∼2044.30; p=0.0323) mutations were independent risk factors for short stature. In the subgroup of steroid-dependent patients, patients with a duration of steroid therapy over 2 years (OR=2.95; 95% CI, 1.00∼8.66; p=0.0494) or maintenance dose of prednisone >0.1 mg/kg per day (OR=3.30; 95% CI, 1.02∼10.72; p=0.0470) had a higher incidence of short stature.\n\n\nCONCLUSIONS\nPatients with DBA had a high prevalence of short stature. The risk of short stature increased with age and was associated with sex, underweight, congenital malformations and RPL11 or RPS26 mutations. The duration of steroid therapy and maintenance dose of steroid was significantly associated with the incidence of short stature in steroid-dependent patients with DBA.