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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT  
Year : 2013  |  Volume : 24  |  Issue : 2  |  Page : 322-325
Hemodialysis treatment on an adult patient with down syndrome associated with ectopic right kidney chronic obstructive nephropathy and secondary amyloidosis


Department of Nephrology "Gregorios Vosnides," Laiko General Hospital, Athens, Greece

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Date of Web Publication26-Mar-2013
 

   Abstract 

In the present report, we describe an unusual case of an adult patient with Down syndrome and ectopic right kidney, who developed end-stage renal disease due to chronic obstructive nephropathy and secondary amyloidosis and was successfully treated with hemodialysis.

How to cite this article:
Kosmadakis G, Smirloglou D, Gobou A, Draganis T, Michail S. Hemodialysis treatment on an adult patient with down syndrome associated with ectopic right kidney chronic obstructive nephropathy and secondary amyloidosis. Saudi J Kidney Dis Transpl 2013;24:322-5

How to cite this URL:
Kosmadakis G, Smirloglou D, Gobou A, Draganis T, Michail S. Hemodialysis treatment on an adult patient with down syndrome associated with ectopic right kidney chronic obstructive nephropathy and secondary amyloidosis. Saudi J Kidney Dis Transpl [serial online] 2013 [cited 2019 Dec 14];24:322-5. Available from: http://www.sjkdt.org/text.asp?2013/24/2/322/109593

   Introduction Top


Down syndrome is associated with congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunction. [1] Not infrequently, Down syndrome may be associated with urological dysplasias like renal hypoplasia, hydroureteronephrosis, vesicoureteral reflux, megaureter, posterior urethral valves, [2] and testicular abnormalities like cryptorchidism, testicular cancer, and infertility. [3] Not infrequently, patients with Down syndrome suffer from congenital disorders of the urinary system that may lead to severe renal impairment in a later period.

The present case report describes an adult patient with Down syndrome and end-stage renal disease.


   Case Report Top


A 40-year-old patient with Down syndrome was admitted with the complaints of anuria, generalized edema, and nausea. Three years prior to the present admission, he was hospitalized elsewhere with severe edema of the lower extremities of three months duration and 24-h proteinuria of 8 g. His serum urea was 38 mg/ dL and serum creatinine was 0.9 mg/dL. His urinalysis revealed severe proteinuria (++++/ ++++) and lipid casts without hematuria. The serological evaluation was negative including antinuclear antibodies, perinuclear anti-neutrophil cytoplasmic antibodies (pANCA) and cytoplasmic ANCA (cANCA); serum and urine immunoelectrophoresis and C3 and C4 complement levels were within normal range. Two attempts for renal biopsy were unsuccessful due to patient's lack of cooperation at that time; he was then diagnosed as having nephrotic syndrome of unknown origin. The patient had no medical history of cardiovascular, respiratory, gastrointestinal, or chronic infectious disease.

On the current admission, the patient presented with generalized pitting edema, breathlessness, and orthopnea. His cardiovascular examination revealed hypotension (80/50 mmHg) with a pulse rate of 98/min and unremarkable auscultation of the cardiac sounds on the cardiac apex as well as the auscultation points of pulmonary and aortic valves. Pulses were palpable in all palpitation points of the lower extremities. Fine crackles over the lung bases were found on auscultation. The palpitation of the abdomen and the liver were unremarkable, and there were no palpable lymph nodes.

Laboratory investigations revealed normochromic anemia with hematocrit 32% and hemoglobin 10.1 g/dL, and severely compromised renal function with serum creatinine 11.2 mg/dL and serum urea 180 mg/dL. His serum potassium level was 6.2 mmol/L; arterial blood gases showed pH 7.24, pCO 2 28 mmHg, and HCO 3 13 mEq/L, and serum albumin was 24 g/L. His electrocardiogram was unremarkable and chest X-ray revealed cardiopulmonary congestion. His renal ultrasound revealed an ectopic right kidney situated in the area of pelvis minor, pelvocalyceal and ureteral dilatation, as well as hyperechogenicity of the renal cortex bilaterally. The left kidney was orthotopic with a length of 10.2 cm, reduced cortex thickness (0.5 cm), and severely attenuated cortex echogenicity with a mild pelvocalyceal dilatation. The patient was treated with urgent hemodialysis through a temporary central catheter due to severe hypervolemia, metabolic acidosis, and hyperkalemia in an anuric setting and without response from a single pulse of 200 mg (10 ampules) of furosemide. The day after, he underwent a cystoscopy with ureteral pig-tails being placed bilate-rally, but he remained anuric. He was treated with daily dialysis, which resulted in a gradual reduction of his weight and clinical improvement of the edema. A renal biopsy of the left kidney was then performed and showed chronic lesions of the renal parenchyma with generalized sclerosis of 21 out of 23 glomeruli and severe tububointerstitial fibrosis with multiple AA amyloid depositions. A thorough investigation for possible causes of secondary amyloidosis, including genetic analysis for hereditary amyloidosis and familial  Mediterranean fever More Details, was performed, but it turned out negative. The patient was started on a thrice-weekly hemodialysis schedule from a permanent vascular catheter. Despite severe hypotension, he tolerated dialysis very well.

The patient survived on dialysis for a period of six months. Then, he was admitted with high temperature, vomiting, diarrhea, circulatory collapse, and anuria. His white blood cell count was 10,800/mcL (granulocytes 78%, lymphocytes 15%). His serum C-reactive protein level was 15.3 mg/L. His chest X-ray revealed no signs of acute respiratory infection. He was treated empirically with Piperacillin/Tazobactam and Netilmicin i.v. Two days later, blood cultures revealed Enterococcus fecalis that was sensitive to the above-mentioned antibiotics. Despite the antibacterial treatment and the continuous infusion of adrenergic agonists, he died two days later due to septic shock.


   Discussion Top


Patients with Down syndrome present relatively often with congenital urogenital disorders. In a series of autopsies from UK, apart from renal hypoplasia, were noted glomerular microcysts, focal dilatation of tubules, and immature glomeruli deep in the renal cortex. [4] There are also a number of studies describing a syndrome consisting of hypercalcemia, hyper-calciuria, medullary calcinosis, and renal failure in patients. [5],[6],[7] In the available literature, there are also solitary cases of primary glomerulopathies. [8],[9] According to a recent study from Spain, 4.5% of patients with Down syndrome suffered from chronic kidney disease. [10] Concerning the secondary amyloidosis, patients with Down syndrome may develop amyloid deposition at a substantially young age. [11] The occurrence of amyloidosis in cerebral vessels in association with giant cell arteritis has been documented in an elderly patient with this syndrome. [12] Furthermore, secondary amyloidosis associated with Alzheimer's disease, cerebral amyloid angiopathy, and cerebral hemorrhage has been reported in patients with Down syndrome in a number of cases. [13],[14],[15]

Amyloidosis may occur in Down syndrome, presumably because of the increased expression of amyloid precursor protein (APP) associated with trisomy 21, the chromosomal location of the APP gene. Until recently, due to the low life expectancy, there were no cases of advanced amyloidosis. The increasing life expectancy of patients with Down syndrome will amplify the number of disorders associated with secondary amyloidosis in this group of patients. [13]

There is only one reported case of renal amyloidosis in a patient with Down syndrome that was attributed to tuberculosis. [16]

Not infrequently, the issue of renal replacement therapy in patients with Down syndrome has challenged the treating physicians and it is not always easy to reach a decision. [17] A small number of patients have been treated with renal replacement therapy, mostly peritoneal dialysis and transplantation. [18],[19],[20] Due to the potential noncompliance, the patients with Down syndrome and end-stage renal disease were rarely treated with hemodialysis, and the issue of other renal replacement therapy options was mainly based on the level of care from the family and the social environment of the patient.

The present study and the available literature provide us with the notion that every case of Down syndrome should be treated individually and the main factors that may facilitate a final decision are the level of care from the family and social environment of the patient, the availability of the health services in the geographic area, and the mental status as well as the compliance of the patient. Dialysis treatment should not be held because the patient is suffering from Down syndrome, since some of these patients who have subnormal IQ can lead a normal life.

In conclusion, we reported a case of a patient with Down syndrome due to ectopic right kidney chronic obstructive nephropathy and secondary amyloidosis and end-stage renal disease that was treated with hemodialysis.

 
   References Top

1.Wiseman FK, Alford KA, Tybulewicz VL, Fisher EM. Down syndrome--recent progress and future prospects. Hum Mol Genet 2009;18:R75-83.  Back to cited text no. 1
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2.Kupferman JC, Stewart CL, Kaskel FJ, Fine RN. Posterior urethral valves in patients with Down syndrome. Pediatr Nephrol 1996;10:143-6.  Back to cited text no. 2
[PUBMED]    
3.Mercer ES, Broecker B, Smith EA, Kirsch AJ, Scherz HC, A Massad C. Urological manifestations of Down syndrome J Urol 2004;171: 1250-3.  Back to cited text no. 3
    
4.Ariel I, Wells TR, Landing BH, Singer DB. The urinary system in Down syndrome: A study of 124 autopsy cases. Pediatr Pathol 1991;11:879-88.  Back to cited text no. 4
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5.Manz F. A toddler with Down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure. Pediatr Nephrol 1996;10:251.  Back to cited text no. 5
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6.Andreoli SP, Revkees S, Bull M. Hypercalcemia, hypercalciuria, medullar nephrocalcinosis, and renal insufficiency in a toddler with Down syndrome. Pediatr Nephrol 1995;9:673.  Back to cited text no. 6
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7.Filler G, Kotecha S, Milanska J, Lawson ML. Trisomy 21 with hypercalcemia, hypercalciuria, medullary calcinosis and renal failure-a syndrome. Pediatr Nephrol 2001;16:99-100.  Back to cited text no. 7
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8.Assadi FK. Ehrich JH. IgG-associated mesangial glomerulonephritis in a patient with Down syndrome. Med Sci Monit 2004;10: CS54-6.  Back to cited text no. 8
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9.Gupta SK, Venkataseshan VS, Churg J. Mesangiocapillary glomerulonephritis in Down's syndrome. Am J Nephrol 1991;11:112-7.  Back to cited text no. 9
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10.Málaga S, Pardo R, Málaga I, Orejas G, Fernández-Toral J. Renal involvement in Down syndrome. Pediatr Nephrol 2005;20:614-7.  Back to cited text no. 10
    
11.Thomas PK. Genetic factors in amyloidosis. J Med Genet 1975;12:317-26.  Back to cited text no. 11
    
12.Reid AH, Maloney AF. Giant cell arteritis and arteriolitis associated with amyloid angiopathy in an elderly mongol. Acta Neuropathol 1974; 27:131-7.  Back to cited text no. 12
    
13.McCarron MO, Nicoll JA, Graham DI. A quartet of Down's syndrome, Alzheimer's disease, cerebral amyloid angiopathy, and cerebral haemorrhage: Interacting genetic risk factors. J Neurol Neurosurg Psychiatry 1998;65:405-6.  Back to cited text no. 13
    
14.Donahue JE, Khurana JS, Adelman LS. Intra-cerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy. Acta Neuropathol 1998;95:213-6.  Back to cited text no. 14
    
15.Ikeda S, Tokuda T, Yanagisawa N, Kametani F, Ohshima T, Allsop D. Variability of beta-amyloid protein deposited lesions in Down's syndrome brains. Tohoku J Exp Med 1994;174: 189-98.  Back to cited text no. 15
    
16.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. 16
    
17.Is dying better than dialysis for a woman with Down syndrome? Camb Q Healthc Ethics 1994 Spring;3:270-1.  Back to cited text no. 17
    
18.Ehrich JH. What is known about renal replacement therapy in a child with Down's syndrome. Pediatr Nephrol 1993;7:248.  Back to cited text no. 18
    
19.Hausmann MJ, Landau D. A Down syndrome patient treated by peritoneal dialysis. Nephron 2002;92:484-6.  Back to cited text no. 19
    
20.Baqi N, Tejani A, Sullivan EK. Renal transplantation in Down syndrome: A report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Transplant 1998;2:211-5.  Back to cited text no. 20
    

Top
Correspondence Address:
George Kosmadakis
Department of Nephrology "Gr. Vosnides," Laiko Hospital, Athens
Greece
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DOI: 10.4103/1319-2442.109593

PMID: 23538358

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    Abstract
   Introduction
   Case Report
   Discussion
    References
 

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