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Abstract: TH-PO1002

Description of Alport Disease in Female Children and Adolescents

Session Information

Category: Glomerular Diseases

  • 1203 Glomerular Diseases: Clinical, Outcomes, and Trials


  • Goka, Selasie, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
  • Copelovitch, Lawrence A., Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
  • Levy Evez, Daniella, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States

Alport disease (AD) is a multi-system disease historically thought to be presymptomatic in young females given inheritance is most commonly X-linked. Prior descriptive studies and outcome data have focused mainly on males and adult women. The aim of this study was to describe the clinical presentation and course of the females with AD in a large pediatric medical center.


A single center retrospective review of pediatric females with AD seen at Children’s Hospital of Philadelphia between 1987 - 2018. All females with ICD 9/10 codes for Alport, familial hematuria and hereditary nephritis were identified. GFR was calculated using the bedside CKiD equation. Hypertension was defined as systolic or diastolic blood pressure ≥95th percentile for age, gender and height. Proteinuria was defined as ≥ 30 mg/dL of protein.


217 subjects were identified, 164 of them excluded for an incorrect diagnosis. 16 charts were missing. 37 female patients were confirmed to have AD and included in the analysis. Mean age of presentation was 5.4 ± 3 yrs with mean follow-up of 6.3 ± 4 yrs. 14 patients had genetic testing, with 80% demonstrating heterozygous mutations in the COL4A5 gene. Biopsies were performed in 11 patients. The remaining patients were diagnosed based on clinical manifestation and family history. At the end of follow up at least one episode of gross hematuria was observed in 15 patients, proteinuria in 21 patients, and GFR <90 ml/min/1.73 m2 in 3 patients. Seven patients had an abnormal audiogram. See Table 1 for pertinent clinical findings. One patient required dialysis and received a deceased donor transplant.


Most females diagnosed with AD in childhood have persistent microscopic hematuria and normal renal function. Gross hematuria, proteinuria, and subclinical hearing involvement were common findings suggesting that AD should not be overlooked in girls with nephritis.

Clinical Characteristics of Females with AD
 Presentation (n=37)End of Follow Up (n=37)
Family History29 (78.4%)29 (78.4%)
Hematuria (microscopic)33 (89.2%)35 (94.6 %)
Hematuria (gross)13 (35.1%)15(40.5%)
Proteinuria12 (32.4%)21(56.8%)
Mean GFR (ml/min/1.73m2)116 ± 23119 ± 36
Patients with GFR <90 ml/min/1.73 m23/27* (11.1%)3/26* (11.5%)
Hypertension (SBP or DBP ≥ 95th %)2(5.4%)3(8.1%)
Abnormal audiogram7/23 tested (30.4%)

*Serum creatinine available for this number of subjects


  • Other NIH Support