hrp0095p1-21 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Etiological analysis of hypophosphatemia: A single-center experience

Eltan Mehmet , Alavanda Ceren , Yavas Abali Zehra , Bayramoglu Elvan , Betul Kaygusuz Sare , Helvacioglu Didem , Gurpinar Tosun Busra , Seven Menevse Tuba , Ata Pinar , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

hrp0092p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A rare cause of hypophosphatemia: Raine Syndrome

Eltan Mehmet , Ata Pinar , Kirkgoz Tarik , Alavanda Ceren , Betul Kaygusuz Sare , Seven Menevse Tuba , Gurpinar Tosun Busra , Abali Zehra Yavas , Helvacioglu Didem , Guran Tulay , Elcioglu H.Nursel , Bereket Abdullah , Turan Serap

Background: Raine Syndrome (RS) is characterized by hypophosphatemia and typical facial dysmorphic features. Subperiostal thickening and diffuse generalized osteosclerosis are the most common radiological findings. Biallelic loss of function mutations in FAM20Cgene cause RS and by reduction of the transcription of DMP1 leads to FGF23-related hypophosphatemia. Here we present a new case with RS.Case: A 9-month-ol...

hrp0094p1-18 | Bone A | ESPE2021

A rare cause of hypercalcemia: Congenital Lactase Deficiency

Eltan Mehmet , Alavanda Ceren , Abali Saygin , Abali Zehra Yavas , Kaygusuz Sare Betul , Tosun Busra Gurpinar , Menevse Tuba Seven , Helvacioglu Didem , Guran Tulay , Ata Pınar , Bereket Abdullah , Turan Serap ,

Background: Congenital lactase deficiency (CLD) occurs as a result of loss of function of intestinal lactase-phlorizin hydrolase (LPH) encoded by LCT gene. Patients usually present with osmotic diarrhea in the first few days of life. Although the exact mechanism is not known, hypercalcemia is a common feature of CLD; with calcium levels up to 14 mg/dl and nephrocalcinosis have been reported. However, CLD is frequently overlooked in the differential diagnosis o...