Scientists at the University of East Anglia have solved a long-standing medical mystery that causes kidney damage in children and can be fatal in babies. Those with the condition are unable to metabolize vitamin D properly. This leads to an accumulation of calcium in the blood and causes kidney dama
Infantile hypercalcemia type 1 is a rare genetic disorder that affects the regulation of calcium levels in the body. Individuals with infantile hypercalcemia type 1 typically present with elevated levels of calcium in the blood, which can result in a range of symptoms including vomiting, constipation, dehydration, irritability, and developmental delays. In severe cases, infantile hypercalcemia type 1 can lead to life-threatening complications such as kidney failure and cardiac arrhythmias.
“This really puzzled us,” said lead researcher Dr. Darrell Green, from UEA’s Norwich Medical School. “So we wanted to find out exactly why this 10 percent appeared to have the condition, but without the gene mutation that was found to cause it.” Dr. Green said: “Foods such as dairy products had been fortified with vitamin D, but it led to a number of baby deaths and was eventually banned in many countries except for in breakfast cereals and margarine. In 2011, researchers found that some people are born with a mutation in thegene, which means they cannot metabolize vitamin D properly. This causes a build-up of calcium in the blood, leading to kidney stones and kidney damage, which can be fatal in babies.
“On a wider scale relevant to genetics and health, we know that genes must have the correct sequence to produce the correct protein, but in an added layer of complexity, we now know that genes also have to have a correct physical shape,” added Dr. Green. “A beneficial side effect to some anti-fungal medications includes alteration of vitamin D metabolism lowering active vitamin D, which decreases calcium levels and can give patients a more normal quality of life, which we have started to prescribe in some patients,” he added.Case Study – Shelley O’Connor
“It was very frightening,” she said. “I was in a lot of pain, and the midwives thought I was going into labor. I was really scared for the baby, but when I had an MRI, they found out that it was actually a kidney stone caused by taking vitamin D as a pregnancy supplement.”
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