Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different stages, depending on the type of a genetic mutation, which leads to bone strength impairment. In most cases OI is a disorder with an autosomal dominant inheritance. However, there are also cases of autosomal recessive inheritance. To date, 16 types of OI are distinguished, with type 2 being the most severe due to 100% mortality rate in neonatal and perinatal periods. XLH is characterized by altered bone mineralization due to impaired phosphorus absorption and reabsorption, as a result of mutations in the PHEX gene. The bone tissue «softens», and this process is accompanied by deformities in long tubular bones. In this article we describe the family, in which both diseases are presented, despite their rarity. The case is investigated from points of view: the clinician’s and the patient’s perspective.
Osteogenesis imperfecta (OI) is a group of genetically disorders, which are charaterized by a disturbed bone formation. In turn, the excess of thyroid hormones in Graves' disease (GD) also posses a negative effect on bone tissue, thereby aggravating OI. That requires from the endocrinologist the most careful management of patients with the combination of these pathologies. In this article, we present a unique clinical case of a combination of GD and OI.
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disorder characterized of renal phosphate wasting and rickets/osteomalacia. ADHR is caused by mutations in a circulating peptide, fibroblast growth factor 23 (FGF23). The clinical manifestations depend on the age of patients and the importance of hypophosphatemia. In childhood, clinical manifestations are rickets with lower extremity deformities. In adult onset, it can cause osteomalacia, osteoporosis, bone pain, tiredness. ADHR displays incomplete penetrance and variability in age of onset of clinical features. Biochemical and hormonal markers of the disease are hypophosphatemia, hyperphosphaturia, increased alkaline phosphatase level and a normal level of 1,25(OH) 2D. We present the first report a baby with ADHR from Russia which one was found heterozygous for the R179Q mutation in FGF23 gene.
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