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hrp0094p2-61 | Bone, growth plate and mineral metabolism | ESPE2021

Experience of 6-months of burosumab therapy in five siblings with X-linked hypophosphataemic rickets in the State of Kuwait

Shammari Sameer Al , Enezi Ayed Al , Sameer George , Fawzy Nagla ,

Background: X-linked hypophosphataemic rickets (XLH) is a genetic disorder, characterized by hypophosphatemia and caused by a mutation in the phosphate regulating endopeptidase homolog, X-linked (PHEX) gene which leads to overexpression of fibroblast growth factor 23 (FGF23).1,2 Conventional therapy, supplementation with oral phosphate and vitamin D analogs, does not treat the underlying cause of the disorder and is associated with poor treatment ad...

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hrp0098fc10.6 | Multisystem Endocrine Disorders | ESPE2024

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

Almutair Angham , Tischlinger Katharina , Al Subaihin Abdlmajeed , Al Dibasi Omar , Al Ghanam Suliman , Ghamdi Hadeel , Melha Maali , Alanazi Aisha , AlSaedi Abdulaziz , Althobaiti Enad , Al Senani Aisha , Al Azkawi Hanan , Al Enezi Ayed , Bakkar Ayman , Ali Ahmed , Al Juraibah Fahad , Alyaarubi Saif , Al Sagheir Afaf , Hogler Wolfgang

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...

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ESPE Abstracts

Experience of 6-months of burosumab therapy in five siblings with X-linked hypophosphataemic rickets in the State of Kuwait

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

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