Abstract: TH-PO607

Not Just Sickle Nephropathy: Hematuria and Proteinuria in a Child with Hemoglobin SS Disease and Alport Syndrome

Session Information

Category: Nephrology Education

  • 1302 Fellows and Residents Case Reports

Authors

  • Lynch, Stephanie, Inova Children's Hospital, Alexandria, Virginia, United States
  • Yang, Elizabeth, Pediatric Specialists of Virginia, Falls Church, Virginia, United States
  • Mani, Haresh, Inova Fairfax Hospital, Falls Church, Virginia, United States
  • Seo-Mayer, Patricia, Pediatric Specialists of Virginia (Inova-CNMC) and Georgetown University School of Medicine, Fairfax, Virginia, United States
Background

Nephropathy is known complication of sickle cell disease but is seldom observed in young children. We report the case of a 9-year-old boy with Hemoglobin SS Disease, hematuria and proteinuria, who had concurrent Alport Syndrome. This case illustrates the value of targeted investigation in patients with primary conditions with known renal sequelae who demonstrate atypical presentation or progression. For our patient, this approach uncovered a second unrelated diagnosis.

Methods

A 4 month old African boy presented with fever, anemia, hematuria and proteinuria. He was diagnosed with urosepsis and Hemoglobin SS disease. Over time, hematuria and mild proteinuria persisted. He had normal blood pressure, albumin, creatinine, complements, and RBUS. Family history was negative for CKD. Sickle nephropathy was considered, and ACE-inhibitor was initiated for renoprotection. He later developed gross hematuria and worsened proteinuria in the context of fever and abdominal pain. Papillary necrosis and pyelonephritis were ruled out. Revised family history revealed a maternal male cousin with new hematuria, and a deaf maternal uncle who died in the Congo at an early age of kidney disease, raising suspicion for Alport Syndrome. Genetic testing revealed COL4A5 mutation (Exon 5, c.305_306dupGG), confirming X-linked Alports. Renal biopsy revealed abnormal GBMs with variable areas of thinning and thickening, and retained α1 but lack of staining for α3/α5 chains of type IV collagen.

Conclusion

This is an unusual case of a boy with two concurrent genetic diseases, both with known renal sequelae. Sickle nephropathy usually manifests in the 3rd decade of life, but our patient had early and persistent hematuria and proteinuria, resulting in diagnosis of Alports. Future management will be challenging. Alports will inevitably lead to ESRD, and ongoing vaso-occlusive crises and ischemia reperfusion injury will hasten progression. ACE-inhibitors are key, as they have shown benefit for both conditions, and hydroxyurea may reduce progression of sickle nephropathy. Stem cell transplantation may prove useful to mitigate CKD progression, but risks exist due to lack of a sibling-matched donor. In summary, this case describes a child with two indepedent and unrelated genetic causes of CKD, illustrating an exception to the rule of Occam’s razor.