Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg

BMC Pediatrics

Paul Roschger¹  Nadja Fratzl-Zelman¹  Klaus Klaushofer¹  Ashish Chikermane²  Tamas Marton³  Vrinda Saraff⁴  Suma Uday⁴  Wolfgang Högler⁴  Tom D. Thacher⁵  Ted Tulchinsky⁶ 

[1] 1st Medical Department Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre;Department of Cardiology, Birmingham Women’s and Children’s Hospital;Department of Cellular Pathology, Birmingham Women’s and Children’s Hospital;Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital;Department of Family Medicine, Mayo Clinic;Emeritus, Braun School of Public Health and Community Medicine, Hadassah Medical Center, Hebrew University-Hadassah;

关键词: Rickets;    Hypocalcemia;    Cardiomyopathy;    Seizures;    Policy;    Vitamin D;   

DOI  :  10.1186/s12887-018-1159-y

来源: DOAJ

【 摘 要 】

Abstract Background Whilst hypocalcemic complications from vitamin D deficiency are considered rare in high-income countries, they are highly prevalent among Black, Asian and Minority Ethnic (BAME) group with darker skin. To date, the extent of osteomalacia in such infants and their family members is unknown. Our aim was to investigate clinical, cardiac and bone histomorphometric characteristics, bone matrix mineralization in affected infants and to test family members for biochemical evidence of osteomalacia. Case presentation Three infants of BAME origin (aged 5–6 months) presented acutely in early-spring with cardiac arrest, respiratory arrest following seizure or severe respiratory distress, with profound hypocalcemia (serum calcium 1.22–1.96 mmol/L). All infants had dark skin and vitamin D supplementation had not been addressed during child surveillance visits. All three had severely dilated left ventricles (z-scores + 4.6 to + 6.5) with reduced ejection fraction (25–30%; normal 55–70), fractional shortening (7 to 15%; normal 29–40) and global hypokinesia, confirming hypocalcemic dilated cardiomyopathy. They all had low serum levels of 25 hydroxyvitamin D (25OHD < 15 nmol/L), and elevated parathyroid hormone (PTH; 219–482 ng/L) and alkaline phosphatase (ALP; 802–1123 IU/L), with undiagnosed rickets on radiographs. One infant died from cardiac arrest. At post-mortem examination, his growth plate showed a widened, irregular zone of hypertrophic chondrocytes. Histomorphometry and backscattered electron microscopy of a trans-iliac bone biopsy sample revealed increased osteoid thickness (+ 262% of normal) and osteoid volume/bone volume (+ 1573%), and extremely low bone mineralization density. Five of the nine tested family members had vitamin D deficiency (25OHD < 30 nmol/L), three had insufficiency (< 50 nmol/L) and 6/9 members had elevated PTH and ALP levels. Conclusions The severe, hidden, cardiac and bone pathology described here exposes a failure of public health prevention programs, as complications from vitamin D deficiency are entirely preventable by routine supplementation. The family investigations demonstrate widespread deficiency and undiagnosed osteomalacia in ethnic risk groups and call for protective legislation.

【 授权许可】

Unknown