A case of cystinuria with a heterozygous mutation presenting with recurrent multiple renal stones in a 14-year-old boy

• Үндсэн зохиолчид: Hye Won Cho (Зохиогч), Min Hwa Son (Зохиогч), Hyung Eun Yim (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Korean Society of Pediatric Nephrology, 2023-12-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine. Most patients develop cystine stones throughout their lifetime. Recurrent renal stones need to be...