Hypophosphatemic rickets. Clinical cases
نویسندگان
چکیده
Hypophosphatemic rickets (HR) is a genetically heterogeneous disease that accompanied by hypophosphatemia, skeletal (rickets-like) disorders, growth retardation in children and adults damage of other organs systems. Its incidence 3.9 cases per 100.000 live births, the prevalence ranges from 1.7 100,000 to 4.8 people (children adults).
 The study was aimed on investigation diagnostic features treatment strategy different HR subtypes evaluation effectiveness therapy. Three patients with two families have been described. Laboratory instrumental investigations were used confirm HR. Genetic diagnosis done using next-generation target sequencing (tNGS) (skeletal dysplasia panel).
 General clinical disorders (e.g. severe deformity lower extremities early childhood) observed All had hypophosphatemia normal/slightly elevated or decreased PTH levels. underwent repeated surgical (without appropriate laboratory genetic testing correction phosphorus-calcium metabolism), which turned out be ineffective led disability. In one family, confirmed presence heterozygous pathogenic PHEX variant, — homozygous SLC34A3 variant. Normophosphatemia achieved girl after starting therapy phosphorus supplements. calcitriol, cholecalciferol supplements little effect (P levels increased but normalization not achieved), thus only burosumab proved rational for such patients. Prior any corrective surgery, thorough examination should performed compensate metabolism. Timely initiation pathogenetic conservative can improve bone structure final growth, as well reduce need surgery.
منابع مشابه
Hereditary hypophosphatemic rickets
Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...
متن کاملHypophosphatemic rickets and osteomalacia.
The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...
متن کاملCase in Point: Hypophosphatemic Rickets
The child had been born to a 19-year-old gravida 2, para 2 mother via cesarean birth secondary to malpresentation and fetal distress. The child weighed 3.06 kg at birth. She currently weighed 6 kg (5th percentile); she was 62 cm tall (5th to 25th percentile); head circumference, 46 cm (95th percentile or higher). Laboratory findings: calcium, 9.7 mg/dL; phosphorus, 2.8 mg/dL, immunoreactive par...
متن کاملHypophosphatemic Rickets and its Dental Significance
I read with interest Rabbani et al’s paper entitled “Dental problems in hypophosphatemic rickets, a cross sectional study” in the fourth issue of Iran J Pediatr 2012[1]. Clinical oral manifestations of hypophosphatemic rickets often include premature tooth exfoliation, hypoplastic enamel and dental infections. Apical rarefaction, rickety bone trabeculation and absent or abnormal lamina dura are...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Klìnì?na endokrinologìâ ta endokrinna hìrurgìâ
سال: 2022
ISSN: ['2519-2582', '1818-1384']
DOI: https://doi.org/10.30978/cees-2022-1-89