Background: It was previously reported that dentin matrix protein 1-null mice, which are the hypophosphatemic rickets animal model, postnatally developed severe periodontal defects. However, to the best of our knowledge, it was not documented whether similar periodontal defects were present in human patients with hypophosphatemic rickets. The aim of this study is to evaluate the periodontal status of adult patients with hypophosphatemic rickets.
Methods: This case-series study evaluates the periodontal condition of adults with genetic hypophosphatemic rickets and compared their periodontal status with similar data from several cycles of the National Health and Nutrition Examination Survey (NHANES). Information regarding medical histories, dental histories, intraoral photos, probing depths (PD), calculated clinical attachment loss (AL), the presence of gingival recession, bleeding on probing, and full-mouth radiographic surveys were acquired. Descriptive statistics were used for comparison to NHANES data.
Results: A total of 10 adult patients with hypophosphatemic rickets (two males and eight females) were evaluated. The definition of periodontitis used in this study is as follows: "A periodontitis case was defined as a person who had ≥ 3 sites with clinical AL ≥ 4 mm and ≥ 2 sites with PD ≥ 3 mm." According to this definition, the patients exhibited periodontal bone loss at a much higher prevalence (60%) compared to the reported national periodontitis prevalence (3.6% to 7.3%).
Conclusion: The preliminary data from our study suggests that patients with hypophosphatemic rickets are more prone to periodontal bone loss than the general population and may require a more careful examination by dental care providers.
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http://dx.doi.org/10.1902/jop.2011.100736 | DOI Listing |
Pediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
Rev Med Chil
September 2024
Hospital de Niños Dr. Roberto del Río, Santiago, Chile.
Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome.
View Article and Find Full Text PDFDiagnostics (Basel)
January 2025
Departamento de Medicina Genómica, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco 289, Col. Arenal de Guadalupe, Ciudad de México 14389, Mexico.
Background/objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of rickets from genetic origin, it is caused by mutations on the gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation is observed at the intrafamily and interfamily level.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
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