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Saudi Journal of Kidney Diseases and Transplantation
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Year : 2013  |  Volume : 24  |  Issue : 5  |  Page : 1015-1018
Primary infantile hyperoxaluria: A rare cause of acute renal failure

1 Department of Pathology, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard, New Delhi, India
2 Department of Nephrology, Safdarjung Hospital, New Delhi, India
3 Institute of Pathology, Indian Council of Medical Research, Safdarjung Hospital Campus, New Delhi, India

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Date of Web Publication12-Sep-2013

How to cite this article:
Jairajpuri ZS, Kishore U, Amitabh V, Agrawal U. Primary infantile hyperoxaluria: A rare cause of acute renal failure. Saudi J Kidney Dis Transpl 2013;24:1015-8

How to cite this URL:
Jairajpuri ZS, Kishore U, Amitabh V, Agrawal U. Primary infantile hyperoxaluria: A rare cause of acute renal failure. Saudi J Kidney Dis Transpl [serial online] 2013 [cited 2022 Jan 17];24:1015-8. Available from: https://www.sjkdt.org/text.asp?2013/24/5/1015/118079
To the Editor,

Acute renal failure (ARF) is a common problem in neonates and infants. Clinical conditions causing hypovolemia, hypoxemia and hypotension in newborns and infants may lead to renal insufficiency, accounting for 8-24% of neonatal intensive care unit (NICU) admissions. [1] ARF due to intrarenal obstruction is rare in infants, whereas primary hyperoxaluria (PH) as a cause of infantile ARF is even rarer.

We had two cases with ARF with hyperoxaluria. The first was an 8-month-old male baby who was brought to the Pediatric Outpatient Department (OPD) with diarrhea and vomiting for the past five days. The patient was admitted for dehydration which was evident. He developed anuria progressing to ARF and was referred to the Nephrology Department. The patient was the second born in a non-consanguineous marriage. There was history of loss of an elder sibling at the age of five years due to renal failure, but the cause was unknown. Routine laboratory investigation showed mild anemia with an elevated blood urea nitrogen and serum creatinine. Stool examination had no significant findings. Abdominal ultrasonogram revealed bilateral increased renal echogenicity. The condition of the patient deteriorated rapidly and he died on Day 2 of admission. A post-mortem kidney biopsy was performed with the permission of the parents.

The second case was a 2-month-old male infant who was brought to the OPD with complaints of vomiting, fever, seizures and anuria for the past three days. The patient was admitted with features of uremic encephalopathy. Laboratory investigation revealed anemia with markedly elevated blood urea and serum creatinine. An abdominal ultrasound revealed bilateral, marked renal parenchymal echogenecity with loss of corticomedullary differentiation. A renal biopsy was performed.

Microscopic examination of both the biopsies revealed extensive intraluminal and interstitial deposits of oxalate crystals. Pale bluish-white, fan-shaped or radially arranged laminated crystals were seen. The crystals were birefringent on polarizing microscopy [Figure 1]a and b. The interstitium showed fibrosis and focal collection of lymphocytes and foamy macrophages. Because of the limitation of the facilities available at our laboratory, liver-specific peroxisomal alanine glyoxylate aminotransferase level and genetic analysis could not be performed.
Figure 1:

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PH is a rare disease characterized by over-production and accumulation of oxalate in the body. The main target organ is the kidney, as oxalate cannot be metabolized and is excreted in the urine, leading to nephrocalcinosis, recurrent urolithiasis and subsequent renal impairment. [2] Decline of renal function leads to extensive deposits of oxalate crystals in other organs. PH is very heterogeneous, with the spectrum ranging from early end-stage renal failure, due to infantile oxalosis, to occasional kidney stones in adults. [3]

The term "primary hyperoxaluria" was first used by Archer and colleagues in 1957 to specifically denote a suspected metabolic origin for the marked hyperoxaluria. [4] PH results in nephrolithiasis, nephrocalcinosis and extensive deposits of oxalate crystals in other organs. [5] There is rapid decline in renal function because, in addition to obstruction by calculus, the tissue crystals result in widespread renal parenchymal destruction. Two forms of PH exist; type 1 (PH 1) and type 2 (PH 2), both characterized by recessively transmitted genetic defects of glyoxylate metabolism. PH 1 is caused by a defect or an absence of liver-specific peroxisomal alanine glyoxylate aminotransferase. PH 2 results from absent glycoxylate reductase activity.

The prevalence and incidence of PHs among the general population are difficult to define and are often underestimated due to the non availability of adequate diagnostic tools. [6] The clinical presentation of the disease, including age at onset, type of presentation, severity and progression to renal failure, is highly variable and extremely heterogeneous. [7],[8] It may range from a mild form with recurrent urolithiasis or moderate nephrocalcinosis to a rapidly progressive infantile form with early renal failure. [9] The first symptoms occur before one year of age in 15% of the patients and before five years of age in 50% of the patients. [10] Up to 10% of the patients are diagnosed with infantile oxalosis, and often die from renal failure during the first few months of life as was seen in one of the present cases. The rapid disease progression in most of the younger patients indicates clearly that an early diagnosis and adequate therapy is crucial.

Diagnosis of PH is often missed or delayed and the reported cases represent only a small number. [3] Difficulties in the diagnosis of oxalosis in infancy are many because the normal ranges of urinary and plasma oxalate in children are not clearly defined. Furthermore, diagnosis of oxaluria may be complicated by advancing renal failure, which hampers urinary excretion of oxalate, the levels of which may fall within the normal range. [11]

Liver biopsy tissue showing deficiency of the enzyme alanine glyoxylate aminotransferase is the diagnostic investigation, but is not readily available. [12] As was in both of our cases, varied clinical manifestations and lack of clinical suspicion have also often hindered in arriving at the diagnosis. In both our cases, there was complete lack of clinical suspicion. Both cases were managed according to the presentation. In a case reported by Madiwale et al, renal transplant had been performed in a 25-year-old patient at a referral hospital for end-stage nephrolithiatic renal disease. Hyperoxaluria was unsuspected clinically and on the pre- and postoperative materials. [13] There have been other instances of similar reports in the literature. [14],[15] In a case of a 5-month-old Thai female infant who presented with diarrhea followed by renal failure, convulsions and death, a kidney necropsy was instrumental in the diagnosis of PH. [16] The diarrhea misled the attending physician. Of interest is the fact that this clinical presentation is very reminiscent of one of our current cases in discussion. Unfortunately, a full patient work-up, including genetic study, could not be done in our case as the patient expired and a limited renal necropsy clinched the diagnosis.

The efficacy of treatment for PH depends upon early diagnosis. Relevant history with respect to consanguinity or siblings with similar clinical features is important in view of the autosomal recessive inheritance. History of consanguinity was present in the second case under discussion. The treatment is aimed at reducing oxalate biosynthesis and calcium supersaturation and preventing systemic oxalosis. Current dialysis techniques are hard to justify in infantile PH as they do not prevent oxalosis. [11],[16] However, combined liver-renal transplantation is the treatment of choice and has considerable success. [13],[16] Renal transplantation alone does not correct the disorder, which will recur in the graft. Moreover, poor results are seen when transplantation is delayed and systemic oxalosis sets in. [17] The management of infants presenting with oxalosis is controversial and a high mortality rate has been reported. [6],[9]

Varied clinical manifestations along with renal failure warrant PH to be considered in the differential diagnosis of intrinsic renal failure, especially in infancy, and an ultrasonogram is indicated in every child with renal failure. [18] Exact diagnosis is important as it has consequences concerning genetic counseling and treatment. The prognosis of the untreated disease is poor, leading to death; hence, early detection and treatment is crucial in order to improve prognosis.

To conclude, we would like to state that although the diagnostic investigation of choice of demonstrating the deficiency of the enzyme alanine glyoxylate aminotransferase in the liver biopsy could not be performed due to limited available facilities, the age, clinical and pathological features support our diagnoses of PH in both the cases.

   References Top

1.Gouyan JB, Guignard JP. Management of acute renal failure in newborns. Pediatr Nephrol 2000;14:1037-44.  Back to cited text no. 1
2.Cochat P, Basmaison O. Current approaches to the management of primary hyperoxaluria. Arch Dis Child 2000;82:470-3.  Back to cited text no. 2
3.Leumann E, Hoppe B. What is new in primary hyperoxaluria? Nephrol Dial Transplant 1999; 14:2556-8.  Back to cited text no. 3
4.Archer HE, Dormer AE, Scowen EF, Watts RW. Primary hyperoxaluria. Lancet 1957;2: 320-2.  Back to cited text no. 4
5.Hoppe B, Leumann E. Diagnostic and therapeutic strategies in hyperoxaluria: A plea for early intervention. Nephrol Dial Transplant 2004;19:39-42.  Back to cited text no. 5
6.Pirulli D, Marengalla M, Amorsa A. Primary hyperoxaluria genotype- phenotype correlation. J Nephrol 2003;16:297-309.  Back to cited text no. 6
7.Watts RW. The clinical spectrum of the primary hyperoxaluria and their treatment. J Nephrol 1998;11[Suppl 1]:4-7.  Back to cited text no. 7
8.Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allosop J. Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity. J Inherit Metab Dis 1994;17:487-99.  Back to cited text no. 8
9.Portillo Martinez FJ, Hoppe B, Al-Turki M, Vorreuther R, Querfeld U, Engelmann UH. Primary hyperoxaluria type1 and urolithiasis in children: Report of three cases. Ann Saudi Med 1997;17:447-50.  Back to cited text no. 9
10.Latta K, Brodehl J. Primary hyperoxaluria type 1. Eur J Pediatr 1990;149:518-22.  Back to cited text no. 10
11.Prahlad N, Vijayakumar M, Nammalwar BR. Unusual cause of acute renal failure in infancy. Indian Pediatr 2004;41:607-10.  Back to cited text no. 11
12.Cochat P, Rolland M. The primary hyperoxaluria. In: Davison AM, Cameron JS, Grunfeld J, et al, eds. Oxford Textbook of Clinical Nephrology. 3 rd ed. Oxford: Oxford University Press; 2005. p. 2374-80.  Back to cited text no. 12
13.Madiwale C, Murlidharan P, Hase NK. Recurrence of primary hyperoxaluria: An avoidable catastrophe following kidney transplant. J Postgrad Med 2008;54:206-8.  Back to cited text no. 13
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14.Kim HH, Koh HI, Ku BI. Late onset primary hyperoxaluria diagnosed after renal transplan tation presented with early recurrence of disease. Nephrol Dial Transplant 2005;20: 1738-40.  Back to cited text no. 14
15.Singh DR, Sagade SN, Kamat MH, Deshpande RB, Shah BV. Oxalosis with nephrocalcinosis. Nephrol Dial Transplant 2000;15:124-5.  Back to cited text no. 15
16.Tantbirojn P, Kittikowit W, Kinguwattanakul P. Primary hyperoxaluria. J Med Assoc Thai 2007;90:1669-72.  Back to cited text no. 16
17.Marangella M. Transplantation strategies in type1 primary hyperoxaluria: The issue of pyridoxine responsiveness. Nephrol Dial Transplant 1999;14:301-3.  Back to cited text no. 17
18.Brennan IN, Diwan RV, Makker SP, Cromer BA, Bellon EM. Ultrasonic diagnosis of primary hyperoxaluria in infancy. Radiology 1982;145:147-8.  Back to cited text no. 18

Correspondence Address:
Zeeba S Jairajpuri
Department of Pathology, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard, New Delhi
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DOI: 10.4103/1319-2442.118079

PMID: 24029275

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