Bizerea-Moga Teofana Otilia, Chisavu Flavia, Ilies Cristina, Olah Orsolya, Marginean Otilia, Gafencu Mihai, Doros Gabriela, Stroescu Ramona
Department XI of Pediatrics-1st Pediatric Discipline, Center for Research on Growth and Developmental Disorders in Children, 'Victor Babeș' University of Medicine and Pharmacy Timișoara, Eftimie Murgu Sq. No. 2, 300041 Timișoara, Romania.
1st Pediatric Clinic, 'Louis Țurcanu' Children's Clinical and Emergency Hospital, Iosif Nemoianu 2, 300011 Timișoara, Romania.
Children (Basel). 2023 Oct 17;10(10):1701. doi: 10.3390/children10101701.
Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by genetic variants and IIH type 2 associated with mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in and genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes.
特发性婴儿高钙血症（IIH）是一种罕见的遗传疾病，也称为对维生素D3过敏。分子异质性使得两种形式得以区分：由基因变异引起的1型IIH和与突变相关的2型IIH。受影响个体表现出多种症状：高钙血症、高钙尿症、完整甲状旁腺激素水平（PTH）受抑制、肾钙质沉着、血清1,25（OH）2-维生素D3水平升高或水平正常但不适当，以及肾脏磷酸盐流失。本文分别描述了3例在 和 基因中存在杂合突变的IIH病例。基因诊断对于正确治疗和长期预后的预测至关重要。
