Refractory hypotension after bilateral nephrectomies in a Denys-Drash patient with phenylketonuria

Area of Science:

• Pediatric Nephrology
• Genetics
• Endocrinology

Background:

• Denys-Drash syndrome (DDS) is a rare genetic disorder caused by WT1 gene mutations.
• DDS presents with nephrotic syndrome, pseudohermaphroditism, and Wilms' tumor risk.
• Neonatal end-stage kidney disease (ESKD) is a common complication in DDS.

Observation:

• A case of DDS with phenylketonuria and neonatal ESKD requiring peritoneal dialysis (PD) is presented.
• The patient developed refractory hypotension post-bilateral nephrectomies.
• Hospitalization was required for refractory post-prandial hypotension and lactic acidosis.

Findings:

• Blood pressure control and feeding tolerance were achieved with intermittent midodrine, an oral alpha-adrenergic agonist.
• Midodrine provided a therapeutic option for managing persistent post-nephrectomy hypotension in DDS.
• This treatment strategy addressed refractory hypotension and improved clinical stability.

Implications:

• Highlights a potential treatment for a rare but severe complication in Denys-Drash syndrome.
• Suggests midodrine as a viable option for managing post-nephrectomy hypotension in pediatric patients.
• Emphasizes the importance of tailored management strategies for complex genetic syndromes.