Stories about: nephrocalcinosis

Personalized medicine for kidney stones

Kidney stones

One in 10 people in their lifetime will have a kidney stone — a small, hard deposit of mineral and acid salts that can obstruct the drainage of urine, cause intense pain and, if not treated properly, lead to long-term kidney issues. Kidney stones are relatively uncommon in children, but the number of cases over the past two decades has risen.

The treatment for kidney stones has remained the same for decades — increased fluid intake, limited sodium intake, diuretics and potassium citrate therapy. Lifestyle factors are typically blamed for kidney stones, yet twin studies suggest a genetic component. In fact, new research supports pursuing a genetic diagnosis for this common condition, especially in kids.

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Genome-wide sleuthing reveals the cause of a baby’s failure to thrive

(Jeremy Burgin/Flickr)

It started with a 10-month-old boy, who I’ll call Jake, who was feeding poorly. Between 6 and 10 months, a time when infants should be growing rapidly, he hadn’t gained a pound. His diapers were constantly wet – he was urinating at a high rate. He was irritable and fussy.

When a lab test found an extremely elevated blood calcium level, Jake was sent to the emergency room. Such an extreme elevation posed a risk of compromising his heart and kidney function. His blood pressure was sky-high. “He needed immediate IV fluid to bring his calcium down, and an immediate workup,” says Andrew Dauber, then a first-year fellow in endocrinology.

Jake was admitted to Children’s and Dauber took part in the consult with his mentor Joel Hirschhorn, a pediatric endocrinologist trained in genetics. “His kidneys were so calcified they were turning into stones,” Dauber recalls. The senior nephrologist on the team said Jake had the most severe case of nephrocalcinosis he’d seen.

The team put Jake on low-calcium formula and his calcium level slowly came down. His diagnosis was idiopathic infantile hypercalcemia — meaning they had no idea what was causing Jake’s calcium levels to be so high.

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