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1.
J Pediatr Endocrinol Metab ; 35(2): 223-229, 2022 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-34610231

RESUMEN

OBJECTIVES: Nutritional rickets (NR) is still an important problem and one which increasing influxes of immigrants are further exacerbating. This study evaluated cases of mostly immigrant children followed up with diagnoses of NR in our pediatric endocrinology clinic. METHODS: Details of 20 cases diagnosed with NR between 2017 and 2020 were retrieved from file records. RESULTS: Twenty (11 male) cases were included in the study. Three (15%) were Turkish nationals and the others (85%) were immigrants. Hypocalcemia and hypophosphatemia were detected in 17 and 13, respectively. Alkaline phosphatase (ALP) values were normal in two cases, while ALP and parathyroid hormone (PTH) values were elevated in all other cases, and PTH levels were very high (473.64 ± 197.05 pg/mL). 25-hydroxyvitamin D levels were below 20 ng/mL in all cases. Patients with NR received high-dose long-term vitamin D or stoss therapy. Six patients failed to attend long-term follow-up, while PTH and ALP levels and clinical findings improved at long-term follow-up in the other 14 cases. CONCLUSIONS: The elevated PTH levels suggest only the most severe cases of NR presented to our clinic. Clinically evident NR is therefore only the tip of the iceberg, and the true burden of subclinical rickets and osteomalacia remains unidentified. Public health policies should therefore focus on universal vitamin D supplementation and adequate dietary calcium provision, their integration into child surveillance programs, adequate advice and support to ensure normal nutrition, exposure to sunlight, and informing families of the increased risk not only for resident populations but also for refugee and immigrant children.


Asunto(s)
Emigrantes e Inmigrantes , Raquitismo/prevención & control , Adolescente , Fosfatasa Alcalina/metabolismo , Calcio de la Dieta/administración & dosificación , Niño , Preescolar , Suplementos Dietéticos , Femenino , Humanos , Lactante , Masculino , Hormona Paratiroidea/sangre , Raquitismo/sangre , Raquitismo/epidemiología , Vitamina D/administración & dosificación
2.
Turk J Obstet Gynecol ; 18(2): 159-162, 2021 06 02.
Artículo en Inglés | MEDLINE | ID: mdl-34083750

RESUMEN

In recent years, interest in the evaluation of vitamin D levels and the possible outcomes of their deficiency during pregnancy has increased. However, there is no consensus on when to start vitamin D supplementation, its duration, dosage, and the optimum level during pregnancy. The toxicity of vitamin D is as important as its deficiency. From the history of a 5-day-old male baby who was investigated for hypercalcemia, it was learned that the mother took 300,000 IU vitamin D-five ampoules/oral at 30 weeks of gestation every other day. The infant was born prematurely, postpartum bradycardia required positive pressure ventilation, and his hypercalcemia lasted approximately 4 months despite treatment. Maternal excessive and inappropriate use of vitamin D can cause preterm labor and severe hypercalcemia, which is a life-threatening complication in the neonatal period. This case is presented to draw attention to the negative effects of maternal high-dose vitamin D during pregnancy.

3.
J Pediatr Endocrinol Metab ; 32(6): 647-651, 2019 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-31141481

RESUMEN

Background Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR) gene mutations. There is no standard treatment in HVDRR. Case report The patient was a 3-year-old girl presenting with short stature, genu varum deformity, waddling gait and alopecia. She had hypocalcemia, hypophosphatemia, hyperparathyroidism and normal 1.25-(OH)2D levels. The patient was initially treated with calcitriol and high-dose oral calcium (Ca) for 22 months. The patient was treated with continuous high dose intravenous (i.v.) Ca therapy for 4 months, following initial lack of response to oral Ca and calsitriol. At the end of the 4 months, rickets was dramatically improved and did not recur for 3 years after i.v. Ca therapy. DNA sequence analyses of the VDR gene showed a homozygous novel mutation. Conclusions We identified a novel VDR gene mutation, and we concluded that i.v. Ca therapy from the central catheter is a safe treatment in HVDRR.


Asunto(s)
Hormonas y Agentes Reguladores de Calcio/administración & dosificación , Calcio/administración & dosificación , Raquitismo Hipofosfatémico Familiar/tratamiento farmacológico , Mutación , Receptores de Calcitriol/genética , Administración Intravenosa , Preescolar , Raquitismo Hipofosfatémico Familiar/genética , Raquitismo Hipofosfatémico Familiar/patología , Femenino , Humanos , Pronóstico
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