September 10, 2025AME Case ReportsOpen Access

Heterozygous variants of uncertain significance in NPHS1 and CRB2 in a newborn with congenital nephrotic syndrome of the Finnish type and multiple fetal anomalies: a case report

View Full Paper

Ask AI

Bookmark

The infant exhibited significant proteinuria detectable at birth, indicating renal dysfunction and congenital nephrotic syndrome.
Next generation sequencing identified five previously reported heterozygous variants, particularly in NPHS1 and CRB2, linked to the clinical presentation.
Clinical evaluations revealed serious conditions, including cardiomegaly and polycystic kidney disease, complicating the infant's health status.
The findings suggest a relationship between the identified VUS in NPHS1 and CRB2 with the infant's nephrotic syndrome and observed fetal anomalies.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Case report reveals heterozygous variants of uncertain significance in NPHS1 and CRB2, suggesting links to congenital nephrotic syndrome with multiple anomalies.

Cite This Study

Zafar et al. (2025) studied this question.

synapsesocial.com/papers/68c241acb210217d647a094f https://doi.org/10.21037/acr-24-246

View Full Paper

Ask AI

Bookmark

Implication

Case report reveals heterozygous variants of uncertain significance in NPHS1 and CRB2, suggesting links to congenital nephrotic syndrome with multiple anomalies.

Heterozygous variants of uncertain significance in NPHS1 and CRB2 in a newborn with congenital nephrotic syndrome of the Finnish type and multiple fetal anomalies: a case report

Key Points

Discussion

Implication

Cite This Study

Heterozygous variants of uncertain significance in NPHS1 and CRB2 in a newborn with congenital nephrotic syndrome of the Finnish type and multiple fetal anomalies: a case report

Key Points

Discussion

Implication

Cite This Study

Keep reading

Keep reading