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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2011  |  Volume : 22  |  Issue : 5  |  Page : 1019-1021
Renal amyloidosis in a child with neutropenia

1 Department of Pediatric Nephrology, Tehran University of Medical Sciences, Ali Asghar Children Hospital, Tehran, Iran
2 Tehran University of Medical Sciences, Ali Asghar Children Hospital, Tehran, Iran
3 Department of Pathology, Tehran University of Medical Sciences, Ali Asghar Children Hospital, Tehran, Iran

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Date of Web Publication6-Sep-2011


Amyloidosis represents a heterogeneous group of disorders of protein metabolism and is characterized by deposition of fibrillar proteins in the intra- and extracellular spaces. Here, a case of generalized amyloidosis associated with neutropenia is presented. She had a medical history of multiple bacterial infections. At the age of 14 years, she developed nephrotic syndrome. An increase of antigenic stimulation during the intermittent bouts of acute infections would have been the main factor responsible for the development of secondary amyloidosis in this case. To the best of our knowledge, coexistence between neutropenic disorders and renal amyloidosis in children has not been reported till date. The purpose of this report is to present a case of secondary amyloidosis associated with neutropenia in pediatric age group, probably for the first time.

How to cite this article:
Otukesh H, Hoseini R, Behzadi AH, Fereshtehnejad SM, Mehrazma M, Parvin M, Mojtahedzadeh M, Razizadeh N, Pourfakharan M. Renal amyloidosis in a child with neutropenia. Saudi J Kidney Dis Transpl 2011;22:1019-21

How to cite this URL:
Otukesh H, Hoseini R, Behzadi AH, Fereshtehnejad SM, Mehrazma M, Parvin M, Mojtahedzadeh M, Razizadeh N, Pourfakharan M. Renal amyloidosis in a child with neutropenia. Saudi J Kidney Dis Transpl [serial online] 2011 [cited 2021 Sep 19];22:1019-21. Available from: https://www.sjkdt.org/text.asp?2011/22/5/1019/84526

   Introduction Top

Secondary amyloidosis is associated with chronic inflammation and results from systemic deposition of the acute phase reactant serum amyloid A (AA) protein with fibrillar structure. [1] Childhood renal amyloidosis is a rare entity and is almost always secondary in nature as opposed to the primary variety, which is encountered in adults. [2] Amyloid nephropathy (AN) is characterized by a poor prognosis with progression to end-stage renal failure. [3],[4]

AN is more common in developing countries due to high frequency of infections and tuberculosis continues to be a major contributory factor in these countries even today. Coexistence between some immunological disorders such as chronic granulomatosis and renal amyloidosis has been reported in children. [5] To the best of our knowledge, the coexistence between neutropenia due to reticular dysgenesis and renal amyloidosis has never been reported yet. Here, we report a case with reticular dysgenesis related renal amyloidosis that presented as nephrotic syndrome.

   Case Report Top

A 14-year-old girl was admitted to Ali Asghar Children's Hospital with a history of recurrent respiratory infections and oral aphthous lesions that affected the patient since seven years of age.

She was the second of three children born out of a consanguineous marriage. Family history was negative. She did not have complaints such as recurrent abdominal pain, arthritis, and fever. However, she had undergone appendectomy surgery three years ago and had infection at the surgical suture site which lasted for four months.

On admission, the physical examination revealed the following: blood pressure 120/80 mmHg, pulse rate 105/min, respiratory rate 22/ min, and temperature 36.5°C. No phenotypic abnormalities were detected on examination. Periorbital edema and ascites were noted. The liver span was 10 cm. The tip of spleen was palpable in abdominal examination. Lymphadenopathy of anterior cervical chain was detected.

Results of laboratory investigations were as follows: urinalysis showed 4+ proteinuria, pyuria and a 24-hour proteinuria of 3,036 mg/day. Urine specific gravity was 1,014. Complete blood count was as follows: Hb 10.9 g/dL, platelet count (Plt) 344,000/mm 3 , white blood cell count (WBC) 7,400/mm 3 with lymphocyte predominance [78% lymphocytes, 16% polymorphonuclear neutrophils (PMN)]. Serum albumin level was 2 g/dL. Renal function tests were normal. Serum electrolytes and liver function tests were all normal.

Serologic tests revealed no auto-antibodies. Lupus erythematosis (LE) cells were negative. Serum immunoglobulin pattern was normal. A quantitative analysis of lymphocytes revealed a CD3 of 86% (55-80%), CD4 29% (29-59%), CD8 42% (19-48%), CD19 8% (7-23%), and CD16 1% (6-29%). Obvious hepatomegaly and splenomegaly was detected on ultrasonography. Bone marrow study revealed marrow failure in neutrophil production.

Renal amyloid deposition was diagnosed in glomerulus by Congo red and hematoxylin and eosin staining [Figure 1], [Figure 2] and [Figure 3]. Immunofluorescent studies showed positive staining for IgG and IgA.
Figure 1: Renal biopsy Trichrome 200.

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Figure 2: Renal biopsy crystal violet 400.

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Figure 3: Renal biopsy PAS 200.

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She was treated with granulocyte-macrophage colony-stimulating factor (GMCSF) and intravenous immunoglobulin (IVIG). The peripheral neutrophils did not increase with these treatments. Therefore, she was a candidate needing bone marrow transplantation. She developed sepsis one month later and was treated with broad-spectrum antibiotics, but the course of sepsis was progressive and the patient expired from this event.

   Discussion Top

Amyloidosis represents a heterogeneous group of disorders of protein metabolism and is characterized by deposition of fibrillar proteins in the intra- and extracellular spaces [1] . Renal amyloidosis is a rare entity in the pediatric age group and is almost always secondary in nature, related to chronic infections and inflammatory conditions. [2],[3] These conditions cause an increase in the serum AA protein, which acts as an acute phase reactant and results in amyloid deposition. Secondary amyloidosis occurs 2-7 years after the onset of a chronic inflammatory process; however, an onset as early as nine months of life is also reported. [3] It often involves the kidneys, liver and spleen, and commonly presents with nephrotic syndrome and renal insufficiency, hepatomegaly or unexplained gastrointestinal disease. Disease progression is slow and survival is longer in secondary amyloidosis in comparison with primary form. [3],[4],[6]

High incidence of amyloidosis in adult gray collie dogs with congenital cyclic neutropenia has been reported by Cheville et al. [7],[8] Subsequently, some authors have reported relationship between amyloidosis and cyclic neutropenia in adult humans. [9],[10] Shiomura et al [10] reported a 24-year-old female with cyclic neutropenia who died from intestinal obstruction caused by necrosis and perforation of the small intestine. Post-mortem examination revealed generalized amyloidosis involving almost all organs.

The case presented here is typical of renal amyloidosis, associated with recurrent and/or chronic infections. Neutropenia (without cyclic pattern) and bone marrow failure in neutrophil production were the key findings in this girl as the etiology of recurrent infections. There was no cell-mediated immunity disorder, a gammaglobulinemia or lymphopenia. She did not respond to GMCSF and IVIG. Reticular dysgenesis was the diagnosis of this patient and she was candidate for bone marrow transplantation as the choice therapy. In conclusion, to the best of our knowledge, our case is the first reported case of a child with neutropenic disorder secondary to reticular dysgenesis complicated by renal amyloidosis resulting from recurrent infections. Further studies are needed to detect these susceptible cases for amyloidosis formation. It is suggested that amyloidosis can be reversible, at least in some cases of the secondary type, if the preceding infection and the concomitant antigenic stimulation can be removed. Therefore, amyloidosis in cases with neutropenia may be prevented if neutropenia can be corrected ideally with bone marrow transplantation.

   References Top

1.Ozkaya O, Paksu MS, Bek K, et al. Renal amyloidosis due to pulmonary tuberculosis in a patient with Down syndrome. Eur J Pediatr 2006;165:134-5.  Back to cited text no. 1
2.Tank SJ, Chima RS, Shah V, Malik S, Joshi S, Mazumdar RH. Renal amyloidosis following tuberculosis. Indian J Pediatr 2000;67(9):679-81.  Back to cited text no. 2
3.Kaaroud H, Boubaker K, Béji S, et al. Renal amyloidosis followed more than 5 years: report of 12 cases. Transplant Proc 2004;36(6):1796-8.  Back to cited text no. 3
4.Celik AF, Altiparmak MR, Pamuk GE, Pamuk ON, Tabak F. Association of secondary amyloidosis with common variable immune deficiency and tuberculosis. Yonsei Med J 2005; 46(6):847-50.  Back to cited text no. 4
5.Kaltenis P, Mudënienë V, Maknavièius S, Seinin D. Renal amyloidosis in a child with chronic granulomatous disease and invasive aspergillosis, Pediatr Nephrol 2008;23(5):831-4.  Back to cited text no. 5
6.Ozen S. Familial Mediterranean fever: revisiting an ancient disease. Eur J Pediatr 2003; 162:449-54.  Back to cited text no. 6
7.Cheville NF. Amyloidosis associated with cyclic neutropenia in the dog. Blood 1968;31:111-4.  Back to cited text no. 7
8.Cheville NF, Cutlip RC, Moon HW. Microscopic pathology of the gray collie syndrome: Cyclic neutropenia, amyloidosis, enteritis and bone necrosis. Pathol Vet 1970;7:225-45.  Back to cited text no. 8
9.Jennings GH, Levi AJ, Reeve J. A case of chronic granulocytopenia associated with vasculitis and amyloidosis. J Clin Pathol 1973; 26:592-5.  Back to cited text no. 9
10.Shiomura T, Ishida Y, Matsumoto N, Sasaki K, Ishihara T, Miwa S. A case of generalized amyloidosis associated with cyclic neutronpenia. Blood 1979;54(3):628-35.  Back to cited text no. 10

Correspondence Address:
Ashkan Heshmatzade Behzadi
Tehran University of Medical Science, Ali Asghar Children Hospital, Tehran
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PMID: 21912038

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