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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2016  |  Volume : 27  |  Issue : 3  |  Page : 606-609
Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed

1 Department of Medicine, Faculty of Medicine, Kuwait University, Kuwait
2 Department of Medicine, Al-Amiri Hospital, Safat, Kuwait
3 Department of Pathology, Al-Amiri Hospital, Safat, Kuwait

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Date of Web Publication13-May-2016


Primary hyperoxaluria is an autosomal recessive disorder due to a deficiency in the activity of the peroxisomal hepatic enzyme alanine-glyoxylate aminotransferase. It is a common cause of urolithiasis and end-stage kidney disease in children contrary to the adult phenotypic presentation which is considered a mild disorder with occasional urolithiasis. In this case report, we describe a 25-year-old man who presented with advanced and irreversible kidney failure within three months following strenuous physical training in the police academy. He had nephrocalcinosis and stones in one kidney. Diagnosis was confirmed by establishing the existence of extensive tubular and interstitial crystal deposition in his kidneys and molecular genetic testing. The case illustrates the need to establish an early diagnosis of this disorder to prevent the need for combined liver and kidney transplantation.

How to cite this article:
El-Reshaid K, Al-Bader D, Madda JP. Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed. Saudi J Kidney Dis Transpl 2016;27:606-9

How to cite this URL:
El-Reshaid K, Al-Bader D, Madda JP. Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed. Saudi J Kidney Dis Transpl [serial online] 2016 [cited 2019 Nov 13];27:606-9. Available from: http://www.sjkdt.org/text.asp?2016/27/3/606/182440

   Introduction Top

Primary hyperoxaluria (PH) is an autosomal recessive disorder due to a deficiency in the activity of the peroxisomal hepatic enzyme alanine-glyoxylate aminotransferase (AGXT). The disorder is characterized by overproduc- tion of oxalate, which is excreted via the kid- ney as urinary oxalate and urinary glycolate.[1]Type-1 is the most common and accounts for 80% of the reported cases.[2]The disease is more common in North Africa and the Middle East.[3],[4],[5]It presents with an early nephrocalci- nosis, urolithiasis, and end-stage renal disease (ESRD).[6]However, the phenotypic presenta- tion varies in the adult population with high stone load and nephrocalcinosis to just occa- sional stone passer.[3]Early diagnosis and treat- ment may halt disease progression and mis- diagnosis are associated with severe morbidity and mortality with systemic oxalosis.[7],[8]In this case report, we describe a patient with such disease and highlight the pitfalls in diagnosis and management.

   Case Report Top

A 25-year-old Kuwaiti man presented with severe renal failure following strenuous phy-sical training in the police academy. On ad- mission three months ago, he had normal phy- sical examination and routine laboratory tests including kidney functions were performed. The patient did not have significant past med- ical history nor was consuming any medi- cations. His initial physical examination was unremarkable except for a loud pericardial rub. Laboratory investigations showed normocytic normochromic anemia with hemoglobin at 88 g/L and high serum creatinine at 1400 µmol/L. Serum creatine phosphokinase was normal. Ultrasound examination of the abdomen showed a small left kidney with an impacted stone in its cortex and a large one at the pelvi- ureteric junction with moderate hydroneph- rosis. MAG III nuclear scan showed severe impairment of kidney function bilaterally. Computerized tomography (CT) scan of the abdomen confirmed the ultrasound findings and added the existence of severe nephro- calcinosis at the corticomedullary junction bilaterally [Figure 1]. Kidney biopsy showed severe interstitial fibrosis with extensive depo- sition of calcium crystals [Figure 2]. Molecular genetic testing confirmed the mutation of the AGXT gene in chromosome 2q37. Currently, the patient is well on maintenance dialysis and is scheduled to have combined liver and kid- ney transplantation.
Figure 1. Computerized tomography scan of the abdomen showing extensive corticomedullary nephrocalcinosis in both kidneys. The left kidney is small in size with evidence of stone obstructing the pelvi-ureteric junction

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Figure 2. Photomicrograph of the kidney biopsy viewed under polarized light. It shows extensive deposition of the birefringent calcium oxalate crystals in the tubules and interstitium (H and E, ×100)

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   Discussion Top

PH is a rare cause of ESRD in the adult population.[2]It should be suspected in patients with recurrent stone formation at young age with or without nephrocalcinosis. The latter may not be evident on plain X-ray of abdomen or ultrasound, yet is usually evident on CT scan examination. The latter findings should alert nephrologists to such disorder, and hence, confirmation of diagnosis may be made via kidney biopsy, molecular genetic testing, and/or by a liver biopsy demonstrating absent or significantly reduced AGT activity.[6],[9],[10],[11]Early diagnosis should be made in patients with urolithiasis and normal kidney function and confirmation made with metabolic scree- ning, which reveals marked increase in urinary oxalate excretion and glycolate in PH Type-1.[6]After the diagnosis is established, further eva- luation should be carried out to assess the function of potentially affected organs by sys- temic oxalosis. As the glomerular filtration rate falls below 30 to 40 mL/min/1.73 m[2], the combination of oxalate overproduction and reduced urinary oxalate excretion results in systemic oxalosis.[12]The latter is characterized by widespread calcium oxalate deposition in the heart, blood vessels, liver, joints, bone, nerves, and brain.[13],[14],[15],[16],[17]Deposition in the cardiac conduction system may result in cardiac arrest. Vascular deposition can lead to poor peri- pheral circulation and digital gangrene. In dialysis patients, it may hinder the creation of vascular access for maintenance hemodia- lysis.[12]Bone manifestations include pain, ery- thropoietin-resistant anemia, and an increased risk for spontaneous fracture. Interestingly, oxalate deposition may be seen as dense supra- metaphyseal bands on X-rays and are most prominent in the metaphyses of long bones and trabecular bones.[18]Osteoarticular manifes- tations are severe and common in patients on maintenance dialysis for more than one year with synovitis, reduced mobility, and pain due to oxalate deposition in joints.[12]Moreover, oxalate deposition in the retinal epithelium and the macula can lead to diminished visual acuity and blindness.[19]Other complications include hypothyroidism, peripheral neuropathy, dental problems (tooth pain, root resorption, and pulp exposure), and skin manifestations including livedo reticularis, peripheral gangrene, and calcinosis cutis metastatic.[18],[20],[21],[22],[23]If PH Type-1 is missed as the underlying etiology of ESRD and the patient receives isolated kidney transplantation, the disease will recur.[24],[25]Hence, establishing diagnosis is essential in such cases where combined liver and kidney transplantation is the ideal treatment to correct the liver disorder.[18],[26],[27]

Our patient developed severe and irreversible renal failure following strenuous physical activity which had led to severe dehydration and progressive interstitial deposition of oxalate due to failure of excretion. The latter phenomenon should be considered a major threat to these patients, especially in our area with hot climate and during Ramadan fasting.

   References Top

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Harambat J, Fargue S, Acquaviva C, et al. Genotype-phenotype correlation in primary hyperoxaluria type 1: The p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int 2010;77:443-9.  Back to cited text no. 3
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[PUBMED]  Medknow Journal  
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Fargue S, Harambat J, Gagnadoux MF, et al. Effect of conservative treatment on the renal outcome of children with primary hyper- oxaluria type 1. Kidney Int 2009;76:767-73.  Back to cited text no. 8
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Monico CG, Rossetti S, Schwanz HA, et al. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol 2007;18:1905-14.  Back to cited text no. 10
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Morgan SH, Purkiss P, Watts RW, Mansell MA. Oxalate dynamics in chronic renal failure. Comparison with normal subjects and patients with primary hyperoxaluria. Nephron 1987;46: 253-7.  Back to cited text no. 12
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Marconi V, Mofid MZ, McCall C, Eckman I, Nousari HC. Primary hyperoxaluria: Report of a patient with livedo reticularis and digital infarcts. J Am Acad Dermatol 2002;46 2 Suppl:S16-8.  Back to cited text no. 23
Rathnamalala NK, Lanerolle RD, Hoppe B, Beck B. Primary hyperoxaluria presenting with early renal allograft dysfunction. Nephrology (Carlton) 2012;17:431.  Back to cited text no. 24
Spasovski G, Beck BB, Blau N, Hoppe B, Tasic V. Late diagnosis of primary hyper- oxaluria after failed kidney transplantation. Int Urol Nephrol 2010;42:825-9.  Back to cited text no. 25
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Bergstralh EJ, Monico CG, Lieske JC, et al. Transplantation outcomes in primary hyper- oxaluria. Am J Transplant 2010;10:2493-501.  Back to cited text no. 27

Correspondence Address:
Kamel El-Reshaid
Department of Medicine, Faculty of Medicine, Kuwait University, P. O. Box 24923, 13110 Safat
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DOI: 10.4103/1319-2442.182440

PMID: 27215260

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