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Kidney Week

Abstract: TH-PO525

Congenital Single Kidney, Inferior Vena Cava Abnormality, and Bilateral Ileo-Femoral Deep Vein Thrombosis: A Case of KILT Syndrome

Session Information

  • Pediatric Nephrology - I
    November 02, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Development, Stem Cells, and Regenerative Medicine

  • 600 Development, Stem Cells, and Regenerative Medicine

Authors

  • Hearn, Amy, Queen Elizabeth Hospital King's Lynn NHS Foundation Trust, King's Lynn, Norfolk, United Kingdom
  • Gunda, Smita, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
Introduction

KILT (kidney and inferior vena cava (IVC) abnormalities with leg thrombosis) syndrome is a rare condition comprising of renal defects, IVC abnormalities and venous thrombosis. There is limited knowledge about its pattern of presentation, management, and prognosis.

Case Description

We present a 30-year old lady who was referred to us with microscopic haematuria, single kidney on recent imaging and normal renal function. She later developed bilateral ileo-femoral DVT.

In 2016, she presented to her General Practitioner with bilateral loin pain and positive urine dip. Computed tomography (CT) urogram was performed due to pyelonephritis revealing a solitary left hypertrophied kidney, hence referred to our renal clinic. She had normal renal function, no proteinuria or hypertension so renal biopsy was not clinically indicated. Renal function and urine parameters were therefore monitored annually.

She presented to the Accident & Emergency department in August 2022 with pelvic inflammatory disease then developed a rigid left calf. Ultrasound Doppler demonstrated extensive DVT involving the popliteal femoral axis and anti-coagulation was commenced. Haematology screen was negative.

She re-presented with right thigh pain in September 2022. CT abdomen-pelvis showed bilateral DVTs extending into the iliac veins and IVC as well as an IVC anatomical variant. In view of her having a single kidney, IVC abnormality and leg thrombosis a diagnosis of KILT syndrome was made. She has since developed a pulmonary embolism despite oral anti-coagulation.

Discussion

Most reported cases present with leg thrombosis and are later found to have absent/hypoplastic kidney. Our patient presented with a single kidney and no known history of thrombosis. The presentation therefore seems to be varied and a high degree of clinical suspicion is necessary. Could we have prevented DVT if we had imaged her IVC anatomy as workup for the single kidney? Perhaps. We feel KILT syndrome should be included in the differential diagnosis of young patients with renal defects to prompt consideration of CT imaging of the IVC. Early detection may prevent renal hypoplasia with vascular intervention. There is no consensus of prevention or management of DVTs in KILT syndrome. Therefore, long-term anticoagulation and more follow up is required.