BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immuneosseous-dysplasia

Özet

Patients with juvenile onset Schimke immune-osseous-dysplasia (SIOD) haveless severe symptoms and can survive in the second and third decade oflife. We present an 18 year-old adolescent with juvenile onset SIOD whowas diagnosed after renal transplantation and developed BK virus associatednephropathy (BKVAN) and severe pneumonia during follow-up. The patientdeveloped nephrotic syndrome, unresponsive to immunosuppressives, at theage of 8 years. He had a history of meningitis, short stature, microcephaly,prominent ears, and bilateral cryptorchidism. A renal transplantation wasperformed at the age of 15 years. During follow-up, he suffered fromleucopenia, urinary tract infections, herpes labialis, and candida esophagitis.Sanger sequencing of SMARCAL1 revealed a missense mutation on exon 11(R586W). A renal biopsy performed after a sharp increase in serum creatinine(without significant viremia) revealed BKVAN which responded to sirolimusmonotherapy and cidofovir. Three months later, he suffered from productivecough and dyspnea with diffuse ground glass pulmonary infiltrates. His clinicalsituation deteriorated and non-invasive mechanical ventilation was started.Cidofovir (2 mg/kg) was re-started weekly for a possible BKV pneumoniawith intravenous immunoglobulin. After 5 doses of cidofovir and intenseantibiotic regime, his dyspnea resolved with stable graft functions. In ourcase; BKVAN, which developed without significant viremia, and possiblyassociated pneumonia were treated successfully with cidofovir and sirolimusmonotherapy.