Neonatal Noonan syndrome with acute kidney injury and systemic capillary leak syndrome caused by a RIT1 variant: a case report and literature review - Scorecard - MDSpire
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Neonatal Noonan syndrome with acute kidney injury and systemic capillary leak syndrome caused by a RIT1 variant: a case report and literature review
Clinical Scorecard: Acute Kidney Injury and Systemic Capillary Leak Syndrome in a Neonate with Noonan Syndrome Due to a RIT1 Variant: A Case Study and Review of Existing Literature
At a Glance
Category
Detail
Condition
Noonan Syndrome (NS)
Key Mechanisms
Aberrant hyperactivation of the RAS-MAPK signaling pathway
Target Population
Neonates with RIT1 variants
Care Setting
Neonatal Intensive Care Unit
Key Highlights
Neonate presented with acute kidney injury (AKI) and systemic capillary leak syndrome (SCLS)
Identified RIT1 variant: c.247A>C (p.Thr83Pro)
Among 54 reported RIT1-NS cases, this was the only one with AKI and SCLS
Functional studies showed enhanced phosphorylation of ERK, JNK, and p38
Early genetic testing may facilitate diagnosis and prognostic assessment
Guideline-Based Recommendations
Diagnosis
Whole-exome sequencing for genetic confirmation of RIT1 variants
Management
Supportive care in the Neonatal Intensive Care Unit
Monitoring & Follow-up
Regular assessment of kidney function and systemic symptoms
Risks
High mortality rate in reported neonatal cases with RIT1 variants
Patient & Prescribing Data
Neonates diagnosed with Noonan syndrome due to RIT1 variants
Management of associated complications such as AKI and SCLS
Clinical Best Practices
Consider genetic testing for neonates presenting with atypical symptoms
Monitor for signs of systemic capillary leak syndrome in affected patients
Provide multidisciplinary care for complex presentations
