ESPE2023 Poster Category 2 Bone, Growth Plate and Mineral Metabolism (27 abstracts)
Case report of an 18-month child with profound osteopenia, hypotonia, respiratory distress and RSV bronchiolitis, on a background of vitamin D dependent rickets type 1 (VDDRI): Acute management and 6 months follow-up.
Eleni Statha 1 , George Paltoglou 1 , Artemis Doulgeraki 2 , Eleni Vakali 3 , Elpis Vlachopapadopoulou 3 , Stavroula Economou 1 , Irini-Ikbale Sakou 1 , Alexandra Soldatou 1 , Kyriaki Karavanaki 4 & Elena Frysira 5
12nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), “P. & A. Kyriakou” Children’s Hospital, Athens, Greece. 2Department of Bone and Mineral Metabolism, Institute of Child Health, Agia Sophia Children’s Hospital, Athens, Greece. 3Department of Endocrinology, Growth and Development, “P. & A. Kyriakou” Children’s Hospital, Athens, Greece. 42nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), “P. & A. Kyriakou” Children’s Hospital, Athens, Greenland. 5Genetics Laboratory, National and Kapodistrian University of Athens (NKUA), “P. & A. Kyriakou” Children’s Hospital, Athens, Greece
Aim: Case report of an 18-month-old child with a background of vitamin D dependent rickets type 1(VDDR1)], due to a mutation of CYP27B1 (c.1319_1325dup and c.335C>T: compound heterozygote).
Methods: Presentation of the case and the management of hypocalcemia as well as the complications of follow-up.
Results: The patient presented at the A&Es of the 2nd Department of Pediatrics, National and Kapodistrian University of Athens (NKUA), “P. & A. Kyriakou” Children’s Hospital, with hypotonia and respiratory distress. The possibility of the diagnosis preceded presentation in the A&Es for about 2 months and the patient was receiving calcium supplementation (750mg/d), phosphate (500mg/d) and calcitriol (250 mcg/day, 27 mcg/kg/d). The patient showcased respiratory distress due to RSV bronchiolitis, that was aggravated by the osteopenia of the thoracic cage. The initial laboratory evaluation showcased hypocalcemia (Ca 7,7 mg/dl), ALP 1859 U/L, hyperparathyroidism (ΡΤΗ 1004 pg/ml), 25(OH) Vitamine D 82 ng/ml and 1,25 (ΟΗ)2 Vitamine D 67,2pg/ml. Following specialist consultation, a skeletal survey was performed that showed extended rickets and significant osteopenia. The patient was started on alphacalcidol (calcitriol is unavailable in Greece) on progressively increasing doses, increased calcium and phosphate supplementation and respiratory support with bronchodilators and oxygen. Oxygen supplementation continued following discharge. During hospitalization the patient showed persistent “hungry bone-like” syndrome, due to redistribution of calcium in the bones. Trough calcium concentrations were 6.4 mg/dl and repetitive gluconic calcium boluses were required as well as gradual increase of alphacalcidol, so the required doses to stabilize calcium at 8,4 mg/dl, were alphacaclidol 4000 ng/d (481ng/kg/d), [usual treatment range: 20-60ng/kg/d]. At 6 months post discharge, the patient is still receiving calcium supplementation (100mg/kg/d) and alphacalcidol (400ng/kg/d), x-ray findings and anthropometry are improving and the hypotonia has improved (the patient is now standing unsupported), while oxygen supplementation is no longer required.
Conclusion: VDDR1 is a rare condition that following recognition requires appropriate treatment with alphacalcidol or calcitriol and regular follow-up, due to the possibility of developing profound osteopenia, failure to grow and failure to achieve developmental motor milestones, as well as the potential to aggravate the morbidity of infections of the respiratory tract.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more