Kidney Week

Abstract: TH-PO518

Ceroid Lipofuscin in Renal Tubular Cells in Hermsky Pudlak Syndrome (HPS): An Unexplored Entity

Session Information

• Genetic Kidney Diseases: Genotypes and Phenotypes in Cases
  October 24, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1202 Genetic Diseases of the Kidneys: Non-Cystic

Authors

• Strickland, Benjamin, Loyola University Chicago, Chicago, Illinois, United States

Benjamin Strickland, DO

• Cintrón-García, Juan J., Loyola University Chicago, Chicago, Illinois, United States

Juan J. Cintrón-García, MD, MPH

• Picken, Maria M., Loyola University Chicago, Chicago, Illinois, United States

Maria M. Picken, MD, PhD, FASN

• Borys, Ewa, Loyola University Chicago, Chicago, Illinois, United States

Ewa Borys, MD

• Vellanki, Kavitha, Loyola University Chicago, Chicago, Illinois, United States

Kavitha Vellanki, MD

Introduction

HPS is a rare autosomal recessive disorder of lysosomes and lysosome related organelles (LOR) resulting in defective oculocutaneous pigmentation and bleeding diathesis. 11 clinical subtypes have been identified so far with a relatively higher prevalence reported in Puerto Rico. While pulmonary manifestations are well known, the renal component of HPS remains unstudied and under-reported. Here, we report kidney biopsy findings in HPS.

Case Description

A 53 year old male from Puerto Rico with bilateral lung transplant (12/2020) for pulmonary fibrosis related to type 1 HPS and baseline stage G3bA3 CKD presented with SOB and AKI on CKD (increase in baseline serum creatinine from 1.8-2.1 to 4.4 mg/dl) with 3.9 gm/gm albuminuria (baseline 0.57 gm/gm). Urinalysis revealed glucosuria since 2021 with no h/o DM. Kidney biopsy findings revealed acute tubular injury and ceroid lipofuscin deposition in tubular epithelium as shown in Figure 1, similar to prior lung biopsy findings (Figure 1).

Discussion

Renal involvement in HPS is characterized by ceroid lysosomal deposition, yet the incidence/prevalence of biopsy proven kidney involvement is not known. In a report of 49 patients with HPS, 20% had creatinine clearance lower than 90 ml/min/1.73m2 (9 out of 45 patients with available data), the pathophysiology of such a finding neither explained nor explored. To our knowledge, our case is the first to report ceroid disposition in both lung and renal tissue in the same patient.

Figure 1: Kidney and lung biopsy findings. A) H&E section with ceroid tubular deposition. B) H&E section with mild glomerular mesangial expansion and ceroid tubular deposition. C) EM section with ceroid tubular deposition. D) Lung biopsy with ceroid deposition.