[Clinical characteristics and genetic analysis of two children with neonatal severe hyperparathyroidism].

Objective: To explore the clinical features and genetic variants in two children with neonatal severe hyperparathyroidism (NSHPT).

Methods: Two children who were diagnosed with NSHPT at the Children's Hospital Affiliated to Xi'an Jiaotong University respectively in August 2019 and April 2022 were selected as the study subjects. Clinical data were collected, and both children were subjected to whole exome sequencing (WES).

Novel Intronic Mutations of the Gene in Patients with Gitelman Syndrome.

Aim: Mutations in the gene have been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. The aim of this research is to investigate the genetic mutations and clinical features of patients with clinical suspicion of GS.

Methods: Six families were enrolled.