Pathophysiology

Pathophysiology

P-II-13. Kidney disease, Case 5

腰疾患 症例5

Case report / complaints:

  • 48-year-old woman
  • Painless swelling of the feet (started 2 months ago), started from the ankles; now the legs, thighs and external genitals are swollen
  • Her face is swollen in the morning
  • Her urine is foamy
  • Difficulty in breathing is getting worse
  • 20 kg weight gain (in 4 months)
  • Untreated diabetes, no smoking, no drinking, no drug use

Diagnostic evaluation:

  • Blood pressure: 153/87 mmHg
  • Pulse: 90/min
  • Pitting edema: legs, upper extremities, labia majora
  • Temperature: 36.0 °C
  • Dull percussion sounds, diminished breathing sounds on both sides
  • Oxygen saturation: 98%
  • X-ray, CT: pleural effusion, ascites
  • Normal heartbeat sounds, no murmurs, normal position of apical impulse; echocardiography: negative
  • No sign of chronic liver disease
  • No neurological deficits
  • Ophthalmic examination: severe non-proliferative diabetic retinopathy

Laboratory (blood):

  • Haemoglobin (Hb): 95 g/L
  • Haematocrit (HTK): 30%
  • MCV: 95 fL
  • White blood cell count (WBC): 4.7 × 10⁹/L
  • Thrombocytes (PLT): 330 × 10⁹/L
  • Sodium (Na⁺): 141 mmol/L
  • Potassium (K⁺): 4.0 mmol/L
  • Urea: 7.1 mmol/L
  • Creatinine: 112 μmol/L
  • Glucose: 9.8 mmol/L
  • HbA1c: 11%
  • Total protein: 55 g/L
  • Albumin: 20 g/L
  • Cholesterol: 15.2 mmol/L
  • Triglycerides: 2.7 mmol/L
  • ASAT: 20 U/L
  • ALAT: 9 U/L
  • CRP: 3 mg/dL

Laboratory (urine) — chemistry test strip:

  • Bilirubin: neg
  • Urobilinogen: normal
  • Ketone: 50 mg/dL
  • Vitamin C: neg
  • Glucose: 500 mg/dL
  • Protein: 500 mg/dL
  • RBC: neg
  • pH: 7.5
  • Nitrite: neg
  • White blood cell (LEU): neg
  • Specific gravity: 1.042
  • Turbidity: clear
  • Colour: yellow

Urine sediment:

  • Red blood cell (RBC): 11.4 /uL
  • White blood cell (WBC): 13.2 /uL
  • Hyaline cast: 20.7
  • Pathologic cast: 1.8
  • Epithelial cell: 30.8
  • Bacterium: 321.2
  • Coccus: 321.2
  • Mucus: 338.8

Key Quotes & What They Tell Us

Quote / Value Interpretation
“Painless swelling … ankles … legs, thighs and external genitals”; “face is swollen in the morning” Generalized pitting oedema/anasarca → severe hypoalbuminaemic state
“urine is foamy”; urine protein 500 mg/dL Massive proteinuria — the defining feature of nephrotic syndrome
Albumin 20 g/L; total protein 55 g/L (low) Hypoalbuminaemia from urinary protein loss → reduced oncotic pressure → oedema
Cholesterol 15.2, triglycerides 2.7 mmol/L Hyperlipidaemia — a classic component of the nephrotic syndrome
“severe non-proliferative diabetic retinopathy”; HbA1c 11% Advanced diabetic microvascular disease → points to diabetic nephropathy as the cause
Echo negative; “No sign of chronic liver disease” Excludes cardiac and hepatic causes of the oedema/low albumin
Pleural effusion + ascites; 20 kg gain in 4 months Fluid accumulation in serous cavities from the severe hypoalbuminaemia

Key Points

  • Diagnosis: Nephrotic syndrome due to diabetic nephropathy (advanced/overt stage).
  • Nephrotic tetrad: Massive proteinuria, hypoalbuminaemia, oedema (anasarca), and hyperlipidaemia.
  • Cause clue: Long-standing poorly controlled diabetes with severe retinopathy strongly supports diabetic glomerulosclerosis.
  • Exclusions: Normal echocardiography and no liver disease rule out cardiac/hepatic causes of oedema.
  • Pathophysiology: Diabetic glomerular damage → heavy albumin loss → low plasma oncotic pressure → fluid shift into tissues and serous cavities (effusion, ascites).

一問一答

How is nephrotic-range proteinuria defined?

Protein loss >3.5 g/24h.

What is the classic tetrad of nephrotic syndrome?

Massive proteinuria, hypoalbuminaemia, oedema, and hyperlipidaemia.

What is the diagnosis in a diabetic woman with anasarca, foamy urine, heavy proteinuria, and low albumin?

Nephrotic syndrome, here due to diabetic nephropathy.

Why does foamy urine occur in nephrotic syndrome?

High protein content in the urine lowers surface tension, producing foam.

What is the mechanism of oedema in nephrotic syndrome?

Urinary albumin loss → hypoalbuminaemia → reduced plasma oncotic pressure → fluid shifts into tissues.

Why does this patient have pleural effusion and ascites?

Severe hypoalbuminaemia allows fluid to accumulate in serous cavities (anasarca).

Why does hyperlipidaemia develop in nephrotic syndrome?

Low oncotic pressure stimulates hepatic lipoprotein synthesis and lipid clearance is reduced.

Why does severe diabetic retinopathy support diabetic nephropathy as the cause here?

Diabetic micro-vascular complications tend to coexist, so advanced retinopathy points to diabetic glomerulosclerosis.

How do a normal echocardiogram and absence of liver disease help here?

They exclude cardiac and hepatic causes of oedema and low albumin, pointing to a renal cause.

Why are nephrotic patients hypercoagulable / at risk of thrombosis?

Urinary loss of anticoagulant proteins (e.g. antithrombin III) and increased clotting factors promote venous thrombosis.

Why are nephrotic patients more susceptible to infections?

Urinary loss of immunoglobulins and complement factors impairs immune defence.

Why does this patient have a 20 kg weight gain over 4 months?

It reflects fluid retention/oedema, not true tissue mass gain.

Why does this patient have worsening dyspnoea?

Pleural effusions and fluid overload reduce lung expansion and gas exchange.

How does nephrotic syndrome differ from nephritic syndrome?

Nephrotic = heavy proteinuria, hypoalbuminaemia, oedema; nephritic = haematuria, hypertension, mild proteinuria, and red-cell casts.

Why is the morning facial/periorbital swelling typical of nephrotic oedema?

The low-pressure periorbital tissues accumulate fluid overnight when recumbent.

Why is this patient mildly anaemic (Hb 95 g/L)?

Chronic kidney disease reduces erythropoietin, and protein loss contributes to anaemia.

What general treatment measures are used in nephrotic syndrome?

Salt/fluid restriction and diuretics for oedema, RAAS blockade to reduce proteinuria, lipid lowering, and treating the underlying cause.

What does pitting oedema reaching the genitals indicate about severity?

Severe, generalized fluid overload (anasarca) from profound hypoalbuminaemia.

Why is the urine specific gravity high (1.042) in this patient?

Heavy proteinuria and glucosuria increase urine solute content, raising specific gravity.

Why does proteinuria itself accelerate kidney damage?

Filtered protein is toxic to tubular cells and promotes interstitial inflammation and fibrosis.