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pediatric

Congenital Nephrotic Syndrome (Finnish Type)

ICD-10 Code
N04.9

Severe nephrotic syndrome presenting within the first 3 months of life, typically due to NPHS1 mutations affecting nephrin in the slit diaphragm. Highly resistant to immunosuppression.

Clinical Presentation & Protocol

Patient Usually Complains Of

Patient is a [Age]-day-old infant presenting with massive proteinuria, generalized edema, and hypoalbuminemia noted since [Onset Date]. History significant for prematurity, low birth weight, and large placenta. No response to initial conservative management. Family history positive for NPHS1 mutation.

Clinical Examination Findings

Physical exam reveals an infant with significant anasarca, abdominal distension due to ascites, and palpable hepatomegaly. Skin shows signs of edema-related tension. Genitourinary exam confirms presence of scrotal/labial edema. Vital signs stable but monitoring for hypertension and signs of hypovolemic shock.

Treatment Protocol

Management plan includes aggressive albumin replacement therapy, diuretics, and nutritional support (high-calorie/high-protein). Initiation of ACE inhibitors to reduce proteinuria. Nephrectomy and early renal transplantation are the definitive therapeutic goals given the resistance to immunosuppressive therapy.

Detailed clinical guide coming soon.