You will be presented with 8 clinical scenarios of children with edema.
For each, interpret the clinical and diagnostic data and provide: 1) Diagnosis, 2) Any other test, 3) What to do next, 4) Follow-up plan.
Nephrotic syndrome: proteinuria, hypoalbuminemia, edemaHeart failure: cardiomegaly, hepatomegaly, gallopCirrhosis: ascites, jaundice, low albumin, high INRAngioedema: swelling without urticaria, C1-INH deficiency
Case 1
A 3-year-old girl with periorbital edema in the morning, generalized pitting edema, and frothy urine for 1 week.
Urine Protein/Cr Ratio
4.5 (elevated, normal <0.2)
Serum Albumin
1.8 g/dL (low, normal 3.5-5.0)
Total Cholesterol
380 mg/dL (elevated, normal <200)
Serum Creatinine
0.4 mg/dL (normal)
Blood Pressure
95/60 mmHg (normal)
C3
Normal
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Nephrotic syndrome (minimal change disease likely) β heavy proteinuria, hypoalbuminemia, hyperlipidemia, edema. Normal C3, normal BP, no hematuria.
β’ Any other test: 24-hour urine protein (gold standard), serum albumin, cholesterol, renal function, hepatitis B/C, HIV, ANA, complement levels.
β’ What to do next: Start prednisone 60 mg/mΒ²/day (max 60 mg) for 4-6 weeks. Salt restriction, loop diuretics (furosemide) for edema. Pneumococcal vaccination.
β’ Follow-up plan: Monitor urine protein daily (dipstick). Assess remission in 4 weeks. If steroid-resistant (no remission), renal biopsy. Long-term: monitor for relapses, infections, thrombosis.
Case 2
A 6-month-old infant with poor feeding, tachypnea, excessive sweating during feeds, and lower extremity edema.
WBC
8.0 Γ 10Β³/Β΅L (normal)
CRP
0.5 mg/dL (normal)
BNP
500 pg/mL (elevated, normal <100)
Chest X-ray
Cardiomegaly, pulmonary edema
Echocardiogram
Dilated left ventricle, EF 30%, large VSD
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Congestive heart failure secondary to congenital heart disease (large VSD) β poor feeding, sweating, tachypnea, cardiomegaly, pulmonary edema, elevated BNP, low EF.
β’ Any other test: ECG, BNP (already done), baseline renal function, liver function, blood culture (rule out sepsis), genetic testing if syndromic.
β’ What to do next: Start diuretics (furosemide 1-2 mg/kg/dose), afterload reduction (ACE inhibitor β enalapril), digoxin if systolic dysfunction. Consult pediatric cardiology for VSD closure planning.
β’ Follow-up plan: Monitor weight, urine output, respiratory status. Repeat echocardiogram. Optimize feeding (calorie-dense formula, NG feeds if needed). Surgical repair of VSD when stable/age-appropriate.
Case 3
A 7-year-old with generalized edema, ascites, and jaundice for 2 months. History of neonatal jaundice and liver dysfunction.
Serum Albumin
2.2 g/dL (low, normal 3.5-5.0)
Total Bilirubin
5.5 mg/dL (elevated, normal <1.0)
AST/ALT
150/120 U/L (elevated)
INR
2.0 (elevated, normal <1.2)
Urine Protein
Negative
Abdominal Ultrasound
Hepatomegaly, ascites, nodular liver surface
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Cirrhosis / chronic liver failure β hypoalbuminemia, jaundice, elevated INR, ascites, nodular liver on ultrasound.
β’ Any other test: Viral hepatitis panel (A, B, C), autoimmune markers (ANA, ASMA, anti-LKM), alpha-1 antitrypsin, ceruloplasmin (Wilson), abdominal Doppler (portal vein patency), liver biopsy.
β’ What to do next: Sodium restriction, diuretics (spironolactone + furosemide) for ascites. IV albumin if severe hypoalbuminemia. Vitamin K for coagulopathy. Start ursodeoxycholic acid.
β’ Follow-up plan: Monitor LFTs, INR, albumin, ascites. Assess for complications: spontaneous bacterial peritonitis (SBP), variceal bleeding, hepatic encephalopathy. Evaluate for liver transplantation.
Case 4
A 12-year-old with recurrent episodes of non-pitting, non-pruritic swelling of hands, feet, lips, and abdominal pain. No urticaria. Family history positive.
C4
5 mg/dL (low, normal 14-40)
C1-INH Protein
15 mg/dL (low, normal 22-45)
C1-INH Function
10% (low, normal >50%)
C1q
Normal
Urine Protein
Negative
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Hereditary angioedema (HAE type 1) β low C4, low C1-INH protein and function, normal C1q, recurrent angioedema without urticaria.
β’ Any other test: Genetic testing (SERPING1 gene), family screening (C4, C1-INH levels), rule out acquired angioedema (C1q low in acquired).
β’ What to do next: Acute attack: C1-INH concentrate (Berinert) IV, or icatibant (SC bradykinin antagonist), or ecallantide (SC kallikrein inhibitor). Avoid ACE inhibitors.
β’ Follow-up plan: Long-term prophylaxis: SC C1-INH (Haegarda), lanadelumab (anti-kallikrein), or berotralstat (oral). Danazol (androgen) second-line in adolescents. Patient education: medical ID, home therapy.
Case 5
A 2-year-old with chronic diarrhea, failure to thrive, and generalized edema. No proteinuria, no liver disease.
Serum Albumin
1.8 g/dL (low, normal 3.5-5.0)
Urine Protein
Negative
AST/ALT
Normal
Stool Alpha-1 Antitrypsin
Elevated (2.5 mg/g, normal <0.5)
Serum IgA
Low
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Protein-losing enteropathy (PLE) β hypoalbuminemia without proteinuria or liver disease, elevated fecal alpha-1 antitrypsin. Causes: intestinal lymphangiectasia, celiac disease, IBD.
β’ Any other test: Upper endoscopy with duodenal biopsy, colonoscopy, capsule endoscopy, serum immunoglobulins, lymphoscintigraphy (if lymphangiectasia).
β’ What to do next: Medium-chain triglyceride (MCT) oil diet (bypasses intestinal lymphatics), nutritional support, treat underlying cause (gluten-free diet if celiac, steroids/immunosuppression if IBD).
β’ Follow-up plan: Monitor albumin, weight, stool alpha-1 antitrypsin. Consider octreotide for refractory lymphangiectasia. Evaluate for associated immunodeficiency (IgA deficiency).
Case 6
A 2-year-old with generalized edema, skin desquamation, reddish-brown hair, and apathy. Adequate caloric intake but poor protein source.
Serum Albumin
1.6 g/dL (low, normal 3.5-5.0)
Total Protein
3.5 g/dL (low, normal 6-8)
Urine Protein
Negative
AST/ALT
Normal
Hemoglobin
8.0 g/dL (low)
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Kwashiorkor (protein-energy malnutrition) β edema, hypoalbuminemia, skin changes, hair discoloration, apathy. Dietary protein deficiency.
β’ Any other test: Micronutrient levels (zinc, iron, vitamin A, B12, folate), blood culture (sepsis risk), stool for ova/cysts, HIV test.
β’ What to do next: Gradual nutritional rehabilitation: start with F-75 (low calorie, high protein) then F-100. Treat infections (antibiotics). Vitamin A supplementation. Monitor for refeeding syndrome (hypophosphatemia, hypokalemia).
β’ Follow-up plan: Daily weight, edema chart, monitor electrolytes, phosphorus. Gradual increase in calories. Long-term: nutritional education, food security, follow-up for growth and development.
Case 7
A 6-year-old with periorbital edema, hypertension (140/90), tea-colored urine. History of sore throat 2 weeks ago.
Urine Protein/Cr Ratio
1.2 (elevated, normal <0.2)
Urine RBC
50/hpf (elevated)
RBC Casts
Present
C3
Low (20 mg/dL, normal 75-135)
C4
Normal
ASO Titer
Elevated (400 IU/mL)
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Acute post-streptococcal glomerulonephritis (PSGN) β hematuria, hypertension, edema, low C3 (normal C4), elevated ASO. History of pharyngitis 1-3 weeks prior.
β’ Any other test: Anti-DNase B, throat culture, blood culture (if febrile), renal function, serum albumin, 24-hour urine protein.
β’ What to do next: Supportive care: fluid restriction, diuretics (furosemide) for edema/HTN, antihypertensives (nifedipine or amlodipine). Antibiotics if ongoing strep (penicillin).
β’ Follow-up plan: Monitor BP, urine output, renal function. C3 normalizes in 6-8 weeks. If proteinuria persists or hypertension >3 months, renal biopsy. Long-term: BP and urinalysis annually.
Case 8
A newborn with non-pitting edema of hands and feet, webbed neck, low hairline. No proteinuria, normal albumin.
Serum Albumin
3.5 g/dL (normal)
Urine Protein
Negative
Karyotype
45,XO (Turner syndrome)
Echocardiogram
Bicuspid aortic valve, coarctation of aorta
Renal Ultrasound
Horseshoe kidney
1οΈβ£ Diagnosis: (Write your answer below)
2οΈβ£ Any other test: (Write your answer below)
3οΈβ£ What to do next: (Write your answer below)
4οΈβ£ Follow-up plan: (Write your answer below)
β Model Answer:
β’ Diagnosis: Turner syndrome with congenital lymphedema β non-pitting edema of hands/feet, webbed neck, 45,XO karyotype, associated with cardiovascular and renal anomalies.
β’ Any other test: Echocardiogram (already done β bicuspid aortic valve, coarctation), renal ultrasound (horseshoe kidney), hearing test, thyroid function, pelvic ultrasound (ovarian function).
β’ What to do next: Cardiology consult (coarctation repair if needed), monitor BP. Growth hormone therapy for short stature. Estrogen replacement at puberty. Lymphedema: compression garments, elevation.
β’ Follow-up plan: Annual BP, thyroid, hearing, cardiac follow-up. Monitor for complications: hypertension, aortic dissection, osteoporosis. Psychological support and genetic counseling.
β οΈ Key Concept: Approach to Edema in Children
β’ Nephrotic syndrome: Proteinuria, hypoalbuminemia, edema β steroids (MCD), monitor for infection/thrombosis.
β’ Heart failure: Tachypnea, sweating, cardiomegaly, gallop β diuretics, ACE inhibitors, cardiology referral.
β’ Cirrhosis: Ascites, jaundice, low albumin, high INR β spironolactone, ascites management, transplant evaluation.
β’ Angioedema: No urticaria, low C4, low C1-INH β C1-INH concentrate or icatibant.
β’ PLE: Hypoalbuminemia, normal urine, normal liver β fecal alpha-1 antitrypsin, MCT diet.
β’ Kwashiorkor: Edema, skin changes, protein deficiency β nutritional rehabilitation.
β’ PSGN: Hematuria, HTN, low C3 β supportive care, penicillin.
β’ Lymphedema: Non-pitting, Turner syndrome β genetic testing, compression.