31: 5-year-old female with puffy eyes

Question 1

Presentations of Periorbital Swelling

Answer 1

• URI
• seasonal/perennial allergic rhinitis and conjunctivitis
• sinusitis (ethmoid, frontal, or maxillary)
• acute allergic reaction
• -Usually abrupt in onset
• -Often accompanied by an urticarial rash
• -May be swelling of other parts of the face as well, including the lips, tongue, and other oropharyngeal structures that can compromise the airway.
• periorbital cellulitis
• -Edema is usually unilateral and usually erythematous.
• -Often accompanied by a history of a local insect bite, trauma, or infection
• -May also extend from another site of infection, such as sinusitis
• -Most often caused today by pneumococci, Moraxella catarrhalis, or non-typable Haemophilus influenzae

Question 2

Physical Signs of Heart Failure

Answer 2

An S4 gallop, if present, would indicate an overloaded left ventricle, and would suggest congestive heart failure. Third heart sounds (S3) can also be part of a gallop rhythm, although third heart sounds can also be heard in normal healthy children. Fourth heart sounds are always pathologic.

Question 3

Nephrotic syndrome results when there is an increase in the permeability of the glomerular filtration barrier in the kidney. This increased permeability leads to the four major characteristics used in establishing the diagnosis of nephrotic syndrome:

Answer 3

proteinuria, hypoalbuminemia, edema, and hyperlipidemia.

Question 4

nephrotic syndrome

Answer 4

1. Increased permeability of the glomerular filtration barrier leads to loss of protein into the urine.
2. Included with that proteinuria is loss of albumin, which leads to serum hypoalbuminemia.
3. Proteins are also involved in lipid regulation; will loss of serum proteins the patient develops hyperlipidemia.
4. Decreased serum oncotic pressure results in interstitial fluid accumulation and resultant edema (the excess
   fluid is in the interstitial space, and not necessarily in the vascular space; patients may actually be hypovolemic. This is why patients with nephrotic syndrome do not become hypertensive).

Question 5

Underlying Causes of Nephrotic syndrome

Answer 5

• Nephrotic syndrome may be primary, referring to a glomerular disease limited to the kidney, or less commonly secondary due to a systemic disease process also impacting the kidneys (such as a collagen vascular disease).
• Minimal change disease is the most common cause of primary nephrotic syndrome in children, accounting for 90 percent of cases under the age of 10.
• The characteristic histologic finding in minimal change disease is fusion and diffuse effacement of the epithelial cell foot processes on electron microscopy.
• As implied by the name, the nephron appears relatively normal on light microscopy.

Question 6

Clinical Findings Nephrotic Syndrome

Answer 6

• -Edema is the most prominent symptom of nephrotic syndrome.
• -Periorbital edema that improves when the child is upright is a common presenting finding.
• -The edema then becomes more generalized, leading to pitting edema, ascites, and weight gain.
• -Patients may complain of nonspecific symptoms of increasing tiredness and decreased appetite due to interstitial fluid accumulation.

Question 7

Pathogenesis of Proteinuria in Nephrotic Syndrome

Answer 7

• -The loss of the polyanion charge characteristic of the normal capillary wall. All layers of the glomerular filtration surface have a negative surface charge due to proteoglycans such as heparin sulfate. Therefore, loss or reduction of this charge may permit large negatively charged proteins like albumin-previously blocked from leaking by electrostatic forces-to leak through the membrane.
• -A shift in the capillary wall pore size in a direction permitting increased leaking of large molecules.
• -A change in the hemodynamic characteristics of capillary flow so there is a greater filtration of larger molecules.

Question 8

Classification of Nephrotic Syndrome

Determination of Response to Steroids

Answer 8

1. steroid-responsive
2. relapsing/steroid-dependent (95%)
3. steroid-resistant: usually then undergo a renal biopsy.

Question 9

Other indications for renal biopsy in patients with nephrotic syndrome include:

Answer 9

• -All patients younger than 6 months of age (increased chance of congenital nephrotic syndrome);
• -Infants > 3 months and < 18 months of age with hematuria;
• -Children > 10 years of age if the diagnosis is not a drug reaction or postinfectious glomerulonephritis;
• -Children with type I diabetes < 10 years’ duration;
• -Children of all ages who have hematuria and proteinuria if the mother has hematuria (Alport syndrome);
• -Children with Henoch-Schoenlein purpura;
• -Children with non-postinfectious glomerulonephritis with progressive decline in renal function and urine output;
• -Patients with suspected lupus nephritis with a positive ANA, elevated anti-DS DNA titer, and a decrease in C3 that persists more than 3 months;
• -Patients with a low serum complement at the time of initial presentation not related to acute postinfectious glomerulonephritis;
• -Patients with systemic lupus erythematosus with proteinuria or nephrotic syndrome;
• -Evidence of chronic renal insufficiency with persistent elevation of serum urea nitrogen and creatinine.

Question 10

Assessing for an Abdominal Fluid Wave (Presence of Ascites)

Answer 10

1. With the patient lying supine, have an assistant place her hand and forearm firmly across the vertical midline of the abdomen.
2. Place your hands on either side of the abdomen.
3. Tap one side of the abdomen firmly with your fingertips.
4. If ascites is present, you may feel a fluid wave hit your other hand. (The third hand is necessary to prevent
   transmission of the fluid wave through adipose tissue.)

Question 11

Treatment of Primary Nephrotic Syndrome

Answer 11

• corticosteroids
• sodium restriction
• combination of IV Furosemide and 25% Albumin to Treat Symptomatic Edema (Note that treatment with IV furosemide alone is very dangerous in nephrotic syndrome because it could lower intravascular volume to dangerously low levels, precipitating shock and increasing the risk of venous thrombosis. And treatment with albumin alone may lead to pulmonary edema if the blood volume expands too rapidly.)

Question 12

An increased risk of bacterial infection during an episode of nephrotic syndrome may be due to any of the following:

Answer 12

• Decreased immunoglobulin levels
• Edema fluid acting as a culture medium
• Protein deficiency
• Decreased leukocyte bactericidal activity
• Immunosuppression from steroids
• Decreased splenic perfusion due to hypovolemia, and
• Urinary loss of a complement factor (properdin factor B) that opsonizes certain bacteria.

Question 13

Common Infectious Complications of Nephrotic Syndrome

Answer 13

• -Spontaneous peritonitis is one of the most frequent complications, with an insidious presentation of fever and minimal other findings (just as described in this scenario). Untreated it can lead to overwhelming sepsis and death, especially while the patient is on steroids. (Streptococcus pneumoniae is the most common pathogen causing peritonitis, but gram-negative bacteria can also be found.)
• -Pneumonia
• -Cellulitis
• -Urinary tract infection

Question 14

When in remission (Nephrotic syndrome), patients should receive:

Answer 14

• Polyvalent pneumococcal vaccine
• Two doses of varicella vaccine (if not already immunized)
• An annual influenza vaccine

Question 15

Evaluation of Generalized Edema:
In a setting of apparent hypoalbuminemia, it is important to obtain studies that will determine whether there is loss of albumin in the urine or lack of production in the liver.

Answer 15

• electrolytes, BUN, Cr
• AST, ALT, cholesterol, albumin, TG
• C3 and C4 complement levels
• Streptozyme

Question 16

Differential Diagnosis for Fatigue, Periorbital Edema, and Increasing Abdominal Girth: Acute glomerulonephritis

Answer 16

• -Glomerulonephritis often causes hypertension and gross hematuria, which may manifest as tea- or coca-cola colored urine.
• -Periorbital edema is often the first sign of hypoalbuminemia, which may be caused by glomerulonephritis.
• -Abdominal distention can be caused by ascites, which is seen in hypoalbuminemic states such as can occur in glomerulonephritis; this can lead to fatigue and poor appetite

Question 17

Differential Diagnosis for Fatigue, Periorbital Edema, and Increasing Abdominal Girth: CHF

Answer 17

• -Although not often seen in children with congestive heart failure, edema is common in adults with heart failure.
• -Hepatomegaly is a common finding in CHF and could present as abdominal distention.
• -It is possible that shortness of breath, typical with CHF, may be difficult to distinguish from fatigue in the patient’s history.

Question 18

Differential Diagnosis for Fatigue, Periorbital Edema, and Increasing Abdominal Girth: Hepatic failure

Answer 18

• -Abdominal distention is an expected finding in liver failure, which causes generalized edema due to decreased production of albumin.
• -Fatigue would be expected.
• -Patients with hepatic failure are almost always markedly jaundiced. Liver failure is a rare diagnosis in an otherwise healthy child.

Question 19

Differential Diagnosis for Fatigue, Periorbital Edema, and Increasing Abdominal Girth: Nephrotic syndrome

Answer 19

• -Periorbital edema is often the 1st sign of hypoalbuminemia, which may be caused by nephrotic syndrome.
• -Abdo distention can be caused by ascites, which is seen in hypoalbuminemic states such as can occur in nephrotic syndrome.
• -Ascites can lead to fatigue & poor appetite.

Question 20

C3 is decreased in PSGN

Answer 20

This value will return to normal six to eight weeks after presentation of PSGN symptoms. Although this patient was treated appropriately for his strep throat, treatment does not prevent PSGN. However, timely and appropriate treatment of strep throat will prevent development of rheumatic fever.

Question 21

MPGN

Answer 21

Tram-track appearance of the glomerular basement membrane and subendothelial immune complex deposition

Question 22

FSGS

Answer 22

Mostly normal glomeruli and mesangial proliferation but with areas of juxtamedullar glomeruli showing segmental scarring in one or more lobules

Question 23

Brian, a 5-year-old boy with swelling around both his eyes and an abdomen that looks “bigger than normal,” is brought in by his mother to your preceptor’s office. Mom explains that she noticed the puffy eyes and bigger belly starting the week before. It seemed to appear out of nowhere, and Brian has been completely healthy except he had a cold several days before these symptoms developed. When you ask Brian if he has noticed anything else weird, he says that his “pee-pee looks like Coca-cola,” at which point his mom scowls and tells him to stop being silly. His blood pressure taken by the nurse right before entering the room is elevated. Based on the above information, which of the following does Brian likely have?

Answer 23

Acute glomerulonephritis would explain all aspects of Brian’s presentation. The disease presents with gross hematuria (which most patients describe as tea-colored or cola-colored), periorbital swelling and ascites due to hypoalbuminemia, and hypertension due to intravascular fluid overload. Additionally, acute glomerulonephritis frequently follows a URI.