Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown
نویسندگان
چکیده
Abstract Objectives To identify a safe pathway for management and treatment of patients with X-linked hypophosphatemic rickets (XLH) during Covid-19 pandemic lockdown. Methods Twenty-six XLH (age 3.1–25.7 years) were enrolled in Pediatric Endocrine Unit; nine them receiving human monoclonal anti-fibroblast growth factor 23 antibody (burosumab) 17 (pediatric patients, age 9.5–17.9 years, n=7; young-adult 20.1–25.7 n=10) received conventional inorganic oral phosphate salts active vitamin D metabolites. A free was addressed burosumab hospital. followed by phone calls, e-mails, or telemedicine. Results All continued the scheduled follow-up treatment; none infected Covid-19. Seven out (41%) showed some complication related to disease itself its treatment: periapical abscess gingival fistula diagnosed five (three children two young-adults) treated antibiotics complete resolution; one child abdominal pain due administration high doses solved reducing dosage, had severe legs deambulation after orthopedic surgery common analgesics. Conclusions effective manage burosumab. E-health technologies useful methods follow
منابع مشابه
X-linked hypophosphatemic rickets: case report.
INTRODUCTION X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and ...
متن کاملTertiary hyperparathyroidism in a patient with X-linked hypophosphatemic rickets.
A 29-year-old female (Weight=50 kg, Height=152 cm, Body Mass Index= 21.6 Kg/m, target height: 151.5 cm) with symptomatic XLHR (X-linked Hypophosphatemic Rickets) since childhood was referred for evaluation of hypercalcemia. At the age of three years, during evaluation for growth retardation and features of rickets along with hypophosphatemia, she received the diagnosis of XLHR. Family history w...
متن کاملThe muscle-bone relationship in X-linked hypophosphatemic rickets.
CONTEXT We recently found that patients with X-linked hypophosphatemic rickets (XLH) have a muscle function deficit in the lower extremities. As muscle force and bone mass are usually closely related, we hypothesized that patients with XLH could also have a bone mass deficit in the lower extremities. OBJECTIVE The study objective was to assess the muscle-bone relationship in the lower extremi...
متن کاملOutcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR)
BACKGROUND X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the limb straightness. Surgery is the alternative for severe or residual limb deformities. OBJECTIVE ...
متن کاملA Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) have been found to be associated with XLH. Here, we report a 16-year-old female patien...
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ژورنال
عنوان ژورنال: Journal of Pediatric Endocrinology and Metabolism
سال: 2021
ISSN: ['0334-018X', '2191-0251']
DOI: https://doi.org/10.1515/jpem-2021-0217