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| Year : 2016 | Volume
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| Issue : 6 | Page : 1287-1289 |
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| Gaucher disease in a patient with focal segmental glomerulosclerosis |
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Jwaher Al-bderat Dr. 1, Nusayba Abbadi Dr. 1, Afrah Shammari Dr. 2, Amer Al-bderat Dr. 3
1 Department of Pediatric Nephrology, Queen Rania Children's Hospital, Amman, Jordan
2 Department of Pediatric Neurology, Queen Rania Children's Hospital, Amman, Jordan
3 Department of Nephrology, King Hussein Medical Center, Amman, Jordan
Click here for correspondence address and email
| Date of Web Publication | 28-Nov-2016 |
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How to cite this article:
Al-bderat J, Abbadi N, Shammari A, Al-bderat A. Gaucher disease in a patient with focal segmental glomerulosclerosis. Saudi J Kidney Dis Transpl 2016;27:1287-9 |
How to cite this URL:
Al-bderat J, Abbadi N, Shammari A, Al-bderat A. Gaucher disease in a patient with focal segmental glomerulosclerosis. Saudi J Kidney Dis Transpl [serial online] 2016 [cited 2023 Jan 27];27:1287-9. Available from: https://www.sjkdt.org/text.asp?2016/27/6/1287/194696 |
To the Editor,
Gaucher disease (GD) is a rare autosomal recessive metabolic disorder, it is the most common genetic disease among Ashkenazi Jews. [1] GD categorized as the most common lysosomal storage disease is caused by the deficiency of glucocerebrosidase (glucosylceramidase, acid B-glucosidase), a lysosomal enzyme that catalyzes the hydrolysis of glycosphingolipids present in the plasma membrane of all mammalian cells, [2] which results in the accumulation of glycolipid (glucocerebroside) within the lysosomes of the macrophages, especially in the bone marrow, spleen, and liver and manifests clinically as massive hepatosplenomegaly, severe bone marrow disease, and occasionally pulmonary or neurological involvement. Renal involvement is rarely and limitedly reported in a few case reports in patients with GD in contrary to other storage diseases such as Fabry disease that frequently affects the kidneys. We report a child with end-stage renal failure secondary to focal segmental glomerulosclerosis (FSGS) who was diagnosed to have GD after investigating him for persistent pancytopenia while he was maintained on hemodialysis (HD).
The patient in our case was a five-year-old male, who is a product of premature vaginal delivery at 34-week gestational age, secondary to maternal gestational diabetes. He had a history of admission to neonatal Intensive Care Unit for two weeks with a suspicion of birth asphyxia; his birth weight was 1850 g and the occipitofrontal circumference was 23 cm (<10 th %), for which the patient was followed up in the neurology clinic and found to have global developmental delay with microcephally. Brain magnetic resonance imaging and electroencephalography were normal during his follow-up investigation. The patient continued to have abnormal movement involving the face and arms and was maintained on anticonvulsant medication. We lost his followup till the age of 18 months when he referred to pediatric nephrology clinic with the picture of nephrotic syndrome (NS), for which he was admitted and investigation revealed nephrotic range proteinuria, with normal complement and normal hepatic profile and normal renal function. Thyroid function test revealed low T4, high thyroid-stimulating hormone, for which he was maintained on L-thyroxin. He was treated by full-dose steroid but was found to be steroid-resistant NS, so kidney biopsy was done which revealed a complete sclerosis of eight glomeruli and a segmental sclerosis of thirty glomeruli. Steroid treatment was stopped and the patient continued on supportive therapy because Galloway-Mowat syndrome was considered as the probable diagnosis of our patient. Renal insufficiency progressed within two years. At the age of four years, the patient developed end-stage renal failure and was started on HD three sessions weekly.
At the age of five years, he was admitted to our center due to persistent pancytopenia for further investigations. His laboratory results showed white blood cell count of 2.4/mm 3 , packed cell volume as 23%, and platelet count of 50,000/mm 3 . His blood film showed normochromic normocytic anemia, leukopenia with neutropenia, no blasts, and thrombocytopenia with few aggregates. Infection screening was unremarkable, and liver function tests were also normal. Cytomegalovirus by polymerase chain reaction was negative and erythrocyte sedimentation rate was 12 mm in the 1 st h. Abdominal ultrasound revealed massive hepatosplenomegaly with spleen size of about 16 cm and liver size of 15 cm. A bone marrow study revealed bone marrow infiltration by histiocytes with pale blue, wrinkled tissue paper-like cytoplasm, a picture consistent with bone marrow involvement by lipid storage disease with features of GD. Low glucocerebroside activity was confirmed in fibroblast test and our patient was labeled as GD. Unfortunately, our patient died one month after his diagnosis during one of his HD sessions because of hypertensive encephalopathy, before arranging him for genetic testing or providing him with enzyme replacement therapy.
Although GD is the most common lysosomal storage disease, descriptions of important renal damage are scant, and affected patients invariably have had splenectomy before the discovery of a kidney abnormality. [3] However, limited reports of abnormal renal function in patients with GD had been described, and the usual morphologic finding is the accumulation of Gaucher cells in the interstitium or in glomeruli, often as incidental features, [4],[5],[6] resulting in varying degrees of proteinuria and hematuria. Few reports described the association between glomerulopathy and GD, like with membranoproliferative glomerulonephritis [7] and FSGS. [8],[9],[10] NS secondary to amyloidosis has also been reported in a few patients with GD. [11],[12] However, to the best of our knowledge, this case was the first to represent GD in already diagnosed FSGS case contrary to the previous reports where the patients already known to have GD, later developed glomerulopathy of unknown etiology but could be the local deposit of glucocerebroside and/or immunological reaction. Furthermore, this report raises the question whether FSGS is a heterogeneous condition and we should carefully look for any associated condition. In our case, Galloway-Mowat syndrome was considered the provisional diagnosis of our patient because the global developmental delay that was associated with microcephaly and renal involvement in the form of steroid-resistant NS was found in our case, a presentation similar to that reported by Pezzella et al. [13] We should keep in mind that FSGS in children and adults may be of reasons because FSGS lesions are by no means specific and may represent the final pathway of different mechanisms of glomerular injury. [14]
 References | |  |
| 1. | Hill SC, Damaska BM, Ling A, et al. Gaucher disease: Abdominal MR imaging findings in 46 patients. Radiology 1992;184:561-6.  |
| 2. | Chen M, Wang J. Gaucher disease: Review of the literature. Arch Pathol Lab Med 2008;132: 851-3. |
| 3. | Santoro D, Rosenbloom BE, Cohen AH. Gaucher disease with nephrotic syndrome: Response to enzyme replacement therapy. Am J Kidney Dis 2002;40:E4. |
| 4. | Eulderink F, Cleton FJ. Gaucher's disease with severe renal involvement combined with pyruvate-kinase deficiency. Pathol Eur 1970;5: 409-19. |
| 5. | Rosenmann E, Aviram A. Glomerular involvement in storage diseases. J Pathol 1973;111: 61-4. |
| 6. | Ross L. Gaucher's cells in kidney glomeruli. Arch Pathol 1969;87:164-7. |
| 7. | Halevi R, Davidovitz M, Mann S, Ben-Bassat M, Stark H, Eisenstein B. Gaucher's disease and mesangiocapillary glomerulonephritis in childhood - A coincidence? Pediatr Nephrol 1993;7:438-40. |
| 8. | Smith RL, Hutchins GM, Sack GH Jr., Ridolfi RL. Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Interstitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med 1978;65:352-60. |
| 9. | Siegal A, Gutman A, Shapiro MS, Griffel B. Renal involvement in Gaucher's disease. Postgrad Med J 1981;57:398-401. |
| 10. | Hollak CE. Renal involvement in type 1 Gaucher disease. Clin Perspect 1998;6:14-5. |
| 11. | Dikman SH, Goldstein M, Kahn T, Leo MA, Weinreb N. Amyloidosis: An unusual complication of Gaucher's disease. Arch Pathol Lab Med 1978;102:460-2. |
| 12. | Kaloterakis A, Filiotou A, Koskinas J, et al. Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature. J Intern Med 1999;246:587-90. |
| 13. | Pezzella M, Yeghiazaryan NS, Veggiotti P, et al. Galloway-Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure 2010;19:132-5. |
| 14. | El Nahas AM. Glomerulosclerosis: Insights into pathogenesis and treatment. Nephrol Dial Transplant 1989;4:843-53. |
Correspondence Address:
Jwaher Al-bderat
Department of Pediatric Nephrology, Queen Rania Children's Hospital, Amman
Jordan
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1319-2442.194696
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