Abdul and Assrar Alsaidi of Paterson, New Jersey, welcomed their son, Ali, into their family, earlier than expected—at only 27 weeks. When Ali was released from the hospital, his first-time parents were overjoyed to take their baby boy home.

At around 8 months old, Ali wasn’t sleeping well and cried a lot. His parents knew it wasn’t unusual for babies to sleep poorly and cry, but their son seemed to be crying more than a typical baby.

Then Abdul and Assrar noticed sand-like particles in their son’s diaper. Incredibly, at less than a year old, Ali had kidney stones.

Finding Kidney Stone Relief

An ultrasound showed Ali’s kidneys were filled with stones, says Richard Schlussel, M.D., pediatric urologist at Joseph M. Sanzari Children’s Hospital at Hackensack University Medical Center and director of Pediatric Urology for Hackensack Meridian Health.

“I was very concerned by how many stones he had in his kidneys,” says Dr. Schlussel, who was worried the stones would block Ali’s kidneys, which could cause short-term or long-term damage to the organs.

He consulted with his colleagues, including kidney stone specialist Michael Degen, M.D., and Kenneth Lieberman, M.D., chief of Pediatric Nephrology. They agreed that a rare genetic disorder was likely causing the stones, so they ordered genetic testing for Ali, which was available at the Children’s Hospital.

In the meantime, Ali’s care team made strides to relieve his discomfort by placing drainage tubes in each kidney. Because of the extreme number of stones, Dr. Schlussel and Dr. Degen performed four minimally invasive surgeries, two on each kidney, to clear out the stones.

“You might be able to get good care for kidney stones in adults just about anywhere, but you need a very specialized place to do it for children,” Dr. Schlussel says. “You need people with the proper experience in this uncommon condition, and you have to have the technical equipment that most medical centers don't have.”

Uncovering the Cause

“Kidney stones in young children less than 5 is an unusual occurrence and almost always due to a rare genetic disorder,” Dr. Lieberman says.

Genetic testing confirmed that Ali has cystinuria, a condition in which the kidneys aren’t able to properly absorb an amino acid called cystine. Since it isn’t absorbed by the kidneys, cystine goes back into circulation. Unlike other amino acids, cystine doesn’t dissolve in water, so it doesn’t get excreted and can form crystals and stones.

The news was shocking to Ali’s parents.  They did not know that they were carriers of the gene mutation that causes the condition and can be passed on to a child.

When Abdul and Assrar had a second child, Omar, they knew there was a chance this son, too, would have cystinuria. When they saw the sand-like granules in Omar’s diaper, they immediately took him to Dr. Lieberman, who ordered genetic testing that confirmed cystinuria.

Both boys, Ali, now 4 and about to start preschool, and Omar, who is less than a year old, are kidney stone-free with the help of maintenance medication, regular ultrasounds and the intake of lots of water.

Next Steps & Resources:

• Meet our sources: Richard Schlussel, M.D., and Kenneth Lieberman, M.D.
• To make an appointment with a pediatric urologist or nephrologist near you, call 800-822-8905 or visit our website.

The material provided through HealthU is intended to be used as general information only and should not replace the advice of your physician. Always consult your physician for individual care.