Renal tubular dysgenesis due to variants in the gene encoding ACE in a child surviving the neonatal period

Autosomal recessive renal tubular dysgenesis (RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system, with the most common outcomes being foetal or neonatal death from renal failure, pulmonary hypoplasia and/or refractory arterial hypotension. A small proportion of patients survive past the neonatal period. We present the case of a toddler with RTD due to compound heterozygous variants in the <i>ACE</i> gene that codes for ACE, who has not required renal replacement therapy to date and in whom fludrocortisone has achieved electrolyte and acid/base balance.