ESPE2023 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)
Non-Osteogenesis Imperfecta Primary Osteoporosis in Children: Clinical and Genetic Features
Busra Gurpinar Tosun 1 , Sare Betul Kaygusuz 2 , Ceren Alavanda 3 , Ahmet Kahveci 1 , Ilknur Kurt 1 , Elif Kelestemur 1 , Zehra Yavas Abali 1 , Didem Helvacioglu 1 , Ahmet Arman 3 , Tulay Guran 1 , Abdullah Bereket 1 , Pınar Ata 3 & Serap Turan 1
1Marmara University, School of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey. 2Kahramanmaras Necip Fazil City Hospital, Department of Pediatric Endocrinology, Kahramanmaras, Turkey. 3Marmara University, School of Medicine, Department of Medical Genetics, Istanbul, Turkey
Keywords: children, primary osteoporosis, next-generation sequencing
Background: Primary osteoporosis (POP) is a rare bone fragility disorder of childhood and is mainly related to osteogenesis imperfecta (OI). However, patients without clinical OI features with recurrent long bone and/or vertebral fractures who comply with the osteoporosis criteria are considered to have non-OI POP. Diagnosis and classification of non-OI POP rely mostly on genetic testing.
Objective: To characterize the clinical findings and familial relationships of children with POP without OI features and to determine the molecular aetiology.
Participants and Method: The clinical and genetic characteristics of 25 patients (17 male, 68%) from 22 families who were followed up with the diagnosis of non-OI POP whose next-generation sequencing analyses were performed were reviewed
Results: The most common complaints at presentation were recurrent fractures (n=17, 68%) followed by backache (n=6, 24%), and short stature (n=1, 4%). Two patients had no complaints. Both were screened after their siblings were diagnosed with osteoporosis (one because of monochorionic twins, the second since both siblings have a history of congenital cataracts). Parental consanguinity was present in 8 (31%) patients. Fifteen (58%) patients had a family history of osteoporosis or recurrent fractures, one had hearing loss and four had nephrolithiasis. Physical examination findings were; extremity deformities (n= 4, 16%), scoliosis/kyphosis (n=8, 32%), chest deformity (n= 2, 10%) and joint laxity (n=7, 28%). Vertebral compression/fracture was observed in 12 (48%) patients on X-ray. After initial screening and exclusion of systemic diseases causing osteoporosis, hearing test, renal ultrasonography (nephrolithiasis: n=2), echocardiography (mitral regurgitation: n=2), and ophthalmologic examination (cataract, glaucoma: n=2) were performed. A gene panel including 22 genes for POP/OI with next-generation sequencing analysis identified molecular aetiology in 32% of the patients (n=3, LRP5 heterozygous; n=2, PLOD2 heterozygous; n=1, SLC9A3R1 heterozygous; n=1, IFITM5 heterozygous; n=1, SP7 homozygous). All patients underwent oral vitamin D and calcium supplementation. Bisphosphonate treatment was initiated in 12 (48%) patients due to vertebral compression fractures and/or recurrent long bone fractures. After a mean treatment of 4.4±4.1 years, DXA L1-4 Z Scores improved significantly (-2.4±1.0 vs. -0.6±1.1, P<0.0001).
Conclusion: Childhood non-OI POP is a heterogeneous group of disorders diagnosed based on excluding systemic diseases and vitamin D deficiency. However, only a third of them can be explained by known genes associated with osteoporosis and, further genetic and metabolic mechanisms need to be explored for these patients
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