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1.
Endocrine ; 84(1): 76-91, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38117452

RESUMEN

INTRODUCTION: X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as well as the quality of life for patients with X-linked hypophosphatemia as they transition to adult life. MATERIALS AND METHODS: Eight Latin American experts on the subject participated in the consensus and two of them were appointed as coordinators. The consensus work was done in accordance with the nominal group technique in 6 phases: (1) question standardization, (2) definition of the maximum number of choices, (3) production of individual solutions or answers, (4) individual question review, (5) analysis and synthesis of the information and (6) synchronic meetings for clarification and voting. An agreement was determined to exist with 80% votes in favor in three voting cycles. RESULTS AND DISCUSSION: Transition to adult life in patients with hypophosphatemia is a complex process that requires a comprehensive approach, taking into consideration medical interventions and associated care, but also the psychosocial components of adult life and the participation of multiple stakeholders to ensure a successful process. The consensus proposes a total of 33 recommendations based on the evidence and the knowledge and experience of the experts. The goal of the recommendations is to optimize the management of these patients during their transition to adulthood, bearing in mind the need for multidisciplinary management, as well as the most relevant medical and psychosocial factors in the region.


Asunto(s)
Raquitismo Hipofosfatémico Familiar , Hipofosfatemia , Osteomalacia , Adulto , Humanos , Raquitismo Hipofosfatémico Familiar/genética , Osteomalacia/genética , Osteomalacia/metabolismo , Consenso , Calidad de Vida , Hipofosfatemia/genética , Hipofosfatemia/metabolismo , Factores de Crecimiento de Fibroblastos/genética
2.
J Endocr Soc ; 5(2): bvaa181, 2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33409439

RESUMEN

CONTEXT: Hypoparathyroidism is a rare disease and, as such, its natural history, long-term complications, and correct clinical management remain unclear. OBJECTIVE: To describe the natural history and clinical characteristics of the disease. DESIGN AND SETTING: To present a retrospective observational analysis from 7 specialized centers in Buenos Aires, Argentina. PATIENTS: Chronic hypoparathyroid patients followed-up between 1985 and December 2018. MAIN OUTCOME MEASURES: Data on demographics, etiology, clinical complications, biochemical parameters, dual-energy x-ray absorptiometry (DXA) values, and treatment doses were collected. RESULTS: A total of 322 subjects with chronic hypoparathyroidism were included; 85.7% were female, the mean age was 55.2 ±â€…16.8 years, and the mean age at diagnosis was 43.8 ±â€…16.8 years. Prevalence of surgical hypoparathyroidism was 90.7%, with the most common causes being thyroid carcinoma and benign thyroid disease. A history of hypocalcemia requiring hospitalization was present in 25.7% of the whole group and in 4.3% of patients who had a history of seizures. Overall, 40.9% of our patients had reported at least 1 neuromuscular symptom. Renal insufficiency was present in 22.4% of our patients and was significantly associated with age (P < 0.0001). Hyperphosphatemia was present in 42% of patients. A history of severe hypocalcemia, paresthesias, tetany, ganglia calcifications, seizures, and cataracts was significantly higher in nonsurgical patients. CONCLUSION: Although these patients were followed-up by experienced physicians, clinical management was heterogeneous and probably insufficient to assess all the potential complications of this chronic disease. Almost 70% of the study's group of patients met the experts' indications for considering the use of rhPTH 1-84. Being aware of this fact is the 1st step in improving our medical management of this disease in the future.

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