Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome
We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS). A 15-year-old male of Puerto Rico ancestry with history of HPS, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD)...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | International Journal of Nephrology |
| Online Access: | http://dx.doi.org/10.4061/2011/324916 |
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| author | Roberto Gordillo Marcela Del Rio David B. Thomas Joseph T. Flynn Robert P. Woroniecki |
| author_facet | Roberto Gordillo Marcela Del Rio David B. Thomas Joseph T. Flynn Robert P. Woroniecki |
| author_sort | Roberto Gordillo |
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| description | We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS). A 15-year-old male of Puerto Rico ancestry with history of HPS, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD) stage II presented with new-onset proteinuria without edema. His blood pressure had been controlled, serum creatinine had been 0.9–1.4 mg/dL, and first morning urine protein/creatinine ratio (UPC) ranged from 0.2 to 0.38. Due to persistent nonorthostatic proteinuria with CKD, renal biopsy was performed and FSGS (not otherwise specified) with chronic diffuse tubulopathy (tubular cytoplasmic droplets) and acute tubular injury was reported. Ceroid-like material is known to infiltrate tissues (i.e., lungs, colon, and kidney) in HPS, but the reason for the renal insufficiency is unknown. Nonspecific kidney disease and in one adult case IgA nephropathy with ANCA-positive glomerulonephritis have previously been reported in patients with Hermansky-Pudlak syndrome. To our knowledge, we report the first pediatric renal pathology case of HPS associated with CKD. This paper discusses presentation and management of renal disease in HPS. |
| format | Article |
| id | doaj-art-a5c2beda99fc47348400fc1520d4ad3e |
| institution | Kabale University |
| issn | 2090-214X 2090-2158 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Nephrology |
| spelling | doaj-art-a5c2beda99fc47348400fc1520d4ad3e2025-02-03T01:12:50ZengWileyInternational Journal of Nephrology2090-214X2090-21582011-01-01201110.4061/2011/324916324916Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak SyndromeRoberto Gordillo0Marcela Del Rio1David B. Thomas2Joseph T. Flynn3Robert P. Woroniecki4Pediatric Nephrology, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USAPediatric Nephrology, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USAAnatomic Pathology, Nephrocor, Uniondale, NY 11553, USAPediatric Nephrology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USAPediatric Nephrology, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USAWe report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS). A 15-year-old male of Puerto Rico ancestry with history of HPS, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD) stage II presented with new-onset proteinuria without edema. His blood pressure had been controlled, serum creatinine had been 0.9–1.4 mg/dL, and first morning urine protein/creatinine ratio (UPC) ranged from 0.2 to 0.38. Due to persistent nonorthostatic proteinuria with CKD, renal biopsy was performed and FSGS (not otherwise specified) with chronic diffuse tubulopathy (tubular cytoplasmic droplets) and acute tubular injury was reported. Ceroid-like material is known to infiltrate tissues (i.e., lungs, colon, and kidney) in HPS, but the reason for the renal insufficiency is unknown. Nonspecific kidney disease and in one adult case IgA nephropathy with ANCA-positive glomerulonephritis have previously been reported in patients with Hermansky-Pudlak syndrome. To our knowledge, we report the first pediatric renal pathology case of HPS associated with CKD. This paper discusses presentation and management of renal disease in HPS.http://dx.doi.org/10.4061/2011/324916 |
| spellingShingle | Roberto Gordillo Marcela Del Rio David B. Thomas Joseph T. Flynn Robert P. Woroniecki Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome International Journal of Nephrology |
| title | Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome |
| title_full | Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome |
| title_fullStr | Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome |
| title_full_unstemmed | Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome |
| title_short | Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome |
| title_sort | hypertension chronic kidney disease and renal pathology in a child with hermansky pudlak syndrome |
| url | http://dx.doi.org/10.4061/2011/324916 |
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