A novel daudin-16 mutation-, severe bone disease, and nephrocalcinosis

摘要

In Feb, 2013, a 26-year-old Pakistani male student came to the emergency department with two self-terminating tonic-clonic seizures. He reported a 3 month history of lethargy, weight loss, polyuria, and polydipsia. He had no notable past medical history and did not take any regular medication. His parents, first cousins, were well. He had seven siblings: three brothers died in infancy and one sister died in her 30s from an undetermined kidney problem. No further clinical information was available because his family lived in Pakistan. Physical examination was normal.