Greetings, My eldest daughter was born on 12th November, 2017. She was healthy and developmentally normal till 7 months of age when she developed diarrhea that rapidly progressed to acute kidney failure. Ultrasound at this stage showed nephrocalcinosis, and so her condition progressed to chronic kidney disease. She passed away on 10th November, 2018, before we could get her genetic testing done to find out the underlying metabolic cause of nephrocalcinosis. I’m pregnant again, and we want to know which blood, urine and radiological tests need to be done for this baby in order to find out the metabolic disorder (if any, God forbid) that can later on cause nephrocalcinosis? And how soon should these tests be carried out after birth? Looking forward to your response.

I am an adult nephrologist and do not see infants or children. I am unaware of any blood or urine tests that can diagnose Nephrocalcinosis in an infant or fetus. I would suggest that you consult with a geneticist or a pediatric nephrologist about such testing. An ultrasound examination can sometimes diagnose Nephrocalcinosis in an adult but I do not know if it can do so in an infant. The ultrasound test is not the definitive test for this disease. I suggest further consultation with a pediatric specialist in your country.

 

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