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3924 search results for:

Rickets 

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  1. 15-04-2024 | Rickets | Online First

    Surgical outcome of angular deformity correction of lower limbs in rickets: a cross-sectional study

    Rickets is a metabolic disease associated with abnormal calcium and phosphate levels that usually occur among children. The prevalence of rickets has been increasing for the past 20 years in both developed and developing countries. However, it is …

  2. 04-02-2024 | Rickets | OriginalPaper

    Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia

    Chronic hypophosphatemia most often occurs due to ongoing renal loss and manifests as rickets/osteomalacia. The primary causes of renal phosphorus loss include excess parathyroid hormone (PTH), or fibroblast growth factor 23 (FGF23), or congenital …

  3. Open Access 01-12-2024 | Rickets | OriginalPaper

    Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

    Hypophosphatemic rickets (HR), also known as familial hypophosphatemia, is characterized by hypophosphatemia and phosphate loss in the kidney. It is mainly a genetic disorder of bone mineralization [ 1 ]. It includes a group of diseases with …

  4. Open Access 22-11-2023 | Hypophosphatemic Rickets | OriginalPaper

    Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets

    Fibroblast growth factor 23 (FGF23) is a 251 amino-acid peptide that is mostly secreted by osteocytes and osteoblasts. Its secretion is stimulated by high phosphate intake, hyperphosphatemia, 1,25-dihydroxyvitamin D (1,25(OH) 2 D), and parathyroid …

  5. Open Access 01-12-2023 | Rickets | OriginalPaper

    Nutritional rickets presenting with developmental regression: a rare presentation of rickets

    Rickets is a disorder of defective mineralisation of the growth plate. Vitamin D deficiency remains the leading cause of nutritional rickets worldwide.We present the case of a 3.5-year-old breastfed boy who presented with dental abscess when a …

  6. 03-02-2024 | Hypophosphatemic Rickets | Online First

    The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience

    A healthy White 4-year-old girl was referred to our center with severe bow legs. No history of lower limb trauma or deformity was reported by the relatives.

  7. Open Access 27-01-2024 | Rickets | ReviewPaper

    Serum 25-hydroxyvitamin D threshold and risk of rickets in young children: a systematic review and individual participant data meta-analysis to inform the development of dietary requirements for vitamin D

    Vitamin D is an essential nutrient for bone health [ 1 ] and possibly for other extra-skeletal health outcomes [ 1 , 2 ]. The main sources of vitamin D are dietary intake and dermal synthesis during sunlight exposure [ 3 ]. Vitamin D (along with …

  8. 01-12-2023 | Letter

    Pediatric Renal Rickets at a Tertiary Center

    We report clinical and etiological profile of 19 children (10 males) with renal rickets managed in the years 2021–2022. Median (IQR) age of presentation was 60 (18–96) months. The commonest cause was renal tubular acidosis (n=8). Genetic analysis …

  9. 15-11-2023 | Hyperparathyroidism | Online First

    From a Mass to Nutritional Rickets: A Case Study

  10. 19-11-2023 | Rickets | OriginalPaper

    Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review

    Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of phosphate homeostasis. We describe a single-center experience of genetically proven HHRH families and perform systematic review phenotype-genotype correlation in …

  11. 04-09-2023 | Rickets | EditorialNotes

    Rickets is Not Always Nutritional!

  12. Open Access 24-01-2023 | Hypophosphatemic Rickets | OriginalPaper

    Exome Sequencing in Monogenic Forms of Rickets

    Rickets is a disorder of growing bone caused by a deficiency of calcium/phosphorous/vitamin D or defects in their metabolism. Defective mineralization and widening of the cartilaginous growth plates are the characteristic features of rickets [ 1 ].

  13. Open Access 01-12-2023 | Hypophosphatemic Rickets | OriginalPaper

    Predictive factors for recurrence after lower limb deformity correction in hypophosphatemic rickets

    Hypophosphatemic rickets is a disease caused by bone and cartilage mineralization defects secondary to renal phosphate wasting [ 1 ]. Patient typically presents with delayed linear growth and deformities of the lower limbs, commonly around the …

  14. Open Access 01-12-2022 | Rickets | OriginalPaper

    Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets

    Primary hyperparathyroidism (PHPT) is a rare endocrine disorder in children and adolescents [ 1 ]. Its incidence is estimated to be 1/200–300,000 compared to 28/100,000 in adult patients [ 2 , 3 ]. Until 2012, PHPT was reported in around 268 …

  15. 07-07-2023 | Hypophosphatemic Rickets | OriginalPaper

    Evaluation of the trabecular bone score in 35 children and adults with X-linked hypophosphatemic rickets

    X-linked hypophosphatemic rickets (XLH) (OMIM 307800) are an X-linked dominant disorder caused by inactivating mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome ( PHEX ), located at Xp22.1. This …

  16. 30-03-2023 | Wilson's Disease | OriginalPaper

    An uncommon cause of hypophosphatemic rickets: Answers

    GATM mutations, which were later named as FRTS1, were first identified in 2018 by Reichold et al. in 28 members of five families with autosomal dominant RFS and kidney failure [ 3 ]. GATM encodes glycine amidinotransferase, a mitochondrial enzyme …

  17. 30-03-2023 | Hypophosphatemic Rickets | OriginalPaper

    An uncommon cause of hypophosphatemic rickets: Questions

    A 4-and-a-half-year-old boy, who had been followed up with a diagnosis of hypophosphatemic rickets at a local hospital, was referred to our clinic. He was admitted with growth retardation and bowing of legs when he was 11 months old and was given …

  18. 01-07-2022 | Hypophosphatemic Rickets | OriginalPaper

    Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study

    Hereditary hypophosphatemic rickets (HHR) is a group of rare renal phosphate-wasting disorders [ 1 – 3 ]. Various genetic defects are known to cause the disease [ 4 ], among them, inactivating mutations in the PHEX (phosphate-regulating …

  19. Open Access 19-04-2023 | Hypophosphatemic Rickets | ReviewPaper

    Refractory Rickets

    Nutritional rickets, caused by vitamin D and/or calcium deficiency is by far the most common cause of rickets. In resource-limited settings, it is therefore not uncommon to treat rickets with vitamin D and calcium. If rickets fails to heal and/or …

  20. 21-12-2022 | Hypophosphatemic Rickets | OriginalPaper

    Sex differences of burosumab in children with X-linked hypophosphataemic rickets

    X-linked dominant hypophosphatemic rickets (XLH, OMIN 307,800) is a rare heritable disease, characterized by rickets with bone deformities, short stature, dental anomalies, hypophosphatemia with low renal phosphate wasting, normal serum calcium …

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