Case 1
52-year-old
Woman

Presentation

  • Middle Eastern woman
  • SCr 2.5 (eGFR 30)
  • Has 2 children and 2 siblings

Comorbidities

  • Obesity, hypertension, type 2 diabetes mellitus

Family History

  • Both mother and father have CKD (stage 3)
  • Aunt in the Middle East always had blood in urine

Diagnosis

  • Patient was screened for Alport syndrome
  • Genetic confirmation of autosomal dominant Alport syndrome

Clinical Follow-Up

  • Progressed to kidney transplant
  • Two children now being screened and monitored

Case 2
18-year-old
Woman

Presentation

  • Smartwatch indicated abnormal heart rhythm
  • Presents to ER with SCr 2.5
  • History of post-strep glomerulonephritis
  • Has 3 siblings
  • Kidney biopsy shows advanced IFTA and electron microscopy suggests Alport syndrome

Family History

  • No clinical evidence of kidney disease

Diagnosis

  • Patient was screened for Alport syndrome
  • Genetic confirmation of autosomal recessive Alport syndrome

Clinical Follow-Up

  • Parents and 3 siblings also underwent genetic testing and were positive for a COL4A  variant; they are being monitored regularly for signs of CKD

Case 3
28-year-old
Man

Presentation

  • Hematuria
  • Nephrotic-range proteinuria
  • Normal GFR
  • Prior diagnosis of FSGS based on a kidney biopsy

Comorbidities

  • Hypertension
  • Sensorineural deafness

Family History

  • Mother underwent a kidney transplant due to ESKD

Diagnosis

  • Genetic confirmation of X-linked Alport syndrome for both mother and son

Clinical Follow-Up

  • Developed progressive kidney impairment associated with persistent proteinuria

Case 4
43-year-old
Woman

Presentation

  • Proteinuria: ACR 256 mg/g

Comorbidities

  • Hypertension treated with Losartan

Family History

  • Diagnosis of Alport Syndrome confirmed after son’s diagnosis
  • Unaffected daughter

Diagnosis

  • X-linked Alport syndrome

Case 5
59-year-old
Woman

Presentation

  • Proteinuria: ACR 185 mg/g

Comorbidities

  • Diabetes type 2 treated with metformin
  • Hearing loss

Family History

  • Known family history of kidney disease
  • Father underwent kidney transplant
  • Paternal aunt is on dialysis

Diagnosis

  • Autosomal recessive Alport syndrome

Case 6
37-year-old
Man

Presentation

  • Proteinuria: ACR 594 mg/g

Comorbidities

  • Hypertension (olmesartan-HCTZ, amlodipine)
  • Hyperlipidemia (fenofibrate, rosuvastatin)
  • Vitamin D deficiency (cholecalciferol)
  • Gout (allopurinol)
  • Hyperkalemia
  • Depression

Family History

  • None

Diagnosis

  • N/A

Case 7
18-year-old
Man

Presentation

  • Proteinuria: ACR 362 mg/g
  • Fatigue
  • Progressive hearing decline (hearing aid)
  • Mild vision impairment

Comorbidities

  • N/A

Family History

  • None

Diagnosis

  • X-linked Alport syndrome

Case 8
35-year-old
Woman

Presentation

  • Proteinuria: ACR 50 mg/g

Comorbidities

  • N/A

Family History

  • Unknown

Diagnosis

  • Autosomal recessive Alport syndrome

SCr=serum creatinine; eGFR=estimated glomerular filtration rate; CKD=chronic kidney disease; ER=emergency room; IFTA=interstitial fibrosis and tubular atrophy; GFR=glomerular filtration rate; ACR=albumin creatinine ratio; FSGS=focal segmental glomerulosclerosis; ESKD=end-stage kidney disease.

Cases are provided for demonstrative purposes only.

Video

Watch Janine’s unique story of how she was finally diagnosed with Alport syndrome 29 years after first experiencing symptoms.

Highlight Alport syndrome by recognizing the following signs:

  • Persistent Hematuria
  • Underlying Inflammation
  • Reduced GFR
  • Family History of CKD or Alport Syndrome

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Alport Syndrome

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Genetic testing for Alport syndrome and several other rare forms of chronic kidney disease is more accessible than ever before. Find out the eligibility requirements for no-charge genetic testing through KIDNEYCODE.