The Urine as a Diagnostic Key for a Homozygous EGFR Mutation
March 2022
in “
Portuguese Journal of Nephrology & Hypertension
”
Studysummary This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
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The document described two case reports of female preterm newborns from consanguineous Roma parents, who presented with alopecia, erythroderma/ichthyosis, and nephromegaly. Both developed severe health issues, including hypomagnesaemia, electrolyte disturbances, recurrent sepsis, and failure to thrive. Exome sequencing revealed a rare homozygous mutation in the epidermal growth factor receptor. Despite optimized medical care, both patients had a poor prognosis and died before their first birthday. The study aimed to contribute to the understanding and management of this rare genetic condition.
