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Question

a 7month old female child,fully vaccinated has presented with diarrhoea for few days followed by gross ascites, deranged liver function and proteinuria. urine reducing substance is positive though neonatal galactosemia screening was normal.ther is hypoproteinimia, urea, creat normal with a high count-29,oootc. no icterus or anaemia. the doppler of hepatic veins and ivc normal.what could be the possible diagnosis.

Answer

Find out whether the proteinuria is in nephrotic range. Rule out nephrotic syndrome, galactosemia. Urine reducing sustance may be because of galactose or glucose. If there is loss of proteins and sugar in urine, rule out Fanconi's syndrome due to galactosemia.
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