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Table 1 Main clinical manifestation of Fabry nephropathy in males with classical phenotypea

From: Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

Blood pressure

Low levels in patients with normal kidney function, higher prevalence of hypertension with increasing age and in patients with CKD (mostly for GFR < 60 ml/min/1.73 m2)

Kidney function

Hyperfiltration in early phasesb, then progressive decrease in GFR, up to CKD and ESKD

Tubular manifestations

Distal renal tubular acidosis, isosthenuria, Fanconi syndrome, nephrogenic diabetes insipidus

Urinalysis

Microalbuminuria in early phases, then clinically manifest proteinuria Nephrotic syndrome in adulthood (18% of untreated patients)

Hematuria

Urine Microscopy

Maltese crosses; Urinary mulberry cells; podocyturia

Ultrasound

Renal cysts (mainly parapelvic)

  1. Abbreviations: CKD chronic kidney disease, eGFR glomerular filtration rate, ESKD end-stage kidney disease
  2. aIn patients with late-onset form, attenuated disease, or in females, clinical manifestations may be delayed or mild
  3. bHyperfiltration should be confirmed by measured GFR rather than creatinine-based estimation methods
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BMC Nephrology

ISSN: 1471-2369

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