2020
Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone
Dreimane D, Chen A, Bergwitz C. Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone. Therapeutic Advances In Musculoskeletal Disease 2020, 12: 1759720x20912862. PMID: 32963591, PMCID: PMC7488884, DOI: 10.1177/1759720x20912862.Peer-Reviewed Original ResearchRecombinant human growth hormoneHereditary hypophosphatemic ricketsOral phosphate supplementationAffected brothersHuman growth hormoneHypophosphatemic ricketsResponse to rhGHBorn to unrelated parentsSequence analysisParameters of mineral homeostasisPhosphate supplementationRenal phosphate leakWhole-exome sequencing analysisGrowth hormone therapyGrowth hormoneBiochemical parameters of mineral homeostasisAccelerated linear growthImprove linear growthUrine biochemical parametersAutosomal recessive disorderRenal phosphate reabsorptionAffected brotherExome sequencing analysisWhole-exome sequencingSanger sequencing analysis
2018
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy
Bergwitz C, Miyamoto KI. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflügers Archiv - European Journal Of Physiology 2018, 471: 149-163. PMID: 30109410, DOI: 10.1007/s00424-018-2184-2.ChaptersConceptsElevated 1,25(OH)2D levelsHereditary hypophosphatemic ricketsHypophosphatemic ricketsActive vitamin D analoguesEnhanced intestinal calcium absorptionActive vitamin D analogsFibroblast growth factor 23Kidney stonesRare autosomal recessive disorderIntestinal calcium absorptionGrowth factor 23Risk of kidney stonesUrinary phosphate wastingDistal renal tubulesVitamin D analogsX-linked hypophosphatemiaAutosomal recessive disorderDevelopment of kidney stonesLoss-of-function mutationsSecondary hyperparathyroidismClinical presentationFactor 23Parathyroid hormoneBone lossCalcium absorption