Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2012:8:373-6.
doi: 10.2147/TCRM.S34954. Epub 2012 Aug 28.

Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1

Majid Alfadhel  1 , Khalid A Alhasan, Mohammed Alotaibi, Khalid Al Fakeeh
Affiliations
Case Reports

Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1

Majid Alfadhel et al. Ther Clin Risk Manag. 2012.

Abstract

Background: Primary hyperoxaluria type 1 (PH1) is characterized by progressive renal insufficiency culminating in end-stage renal disease, and a wide range of clinical features related to systemic oxalosis in different organs. It is caused by autosomal recessive deficiency of alanine:glyoxylate aminotransferase due to a defect in AGXT gene.

Case report: Two brothers (one 6 months old; the other 2 years old) presented with acute renal failure and urinary tract infection respectively. PH1 was confirmed by high urinary oxalate level, demonstration of oxalate crystals in bone biopsy, and pathogenic homozygous known AGXT gene mutation. Despite the same genetic background, same sex, and shared environment, the outcome of the two siblings differs widely. While one of them died earlier with end-stage renal disease and multiorgan failure caused by systemic oxalosis, the older brother is pyridoxine responsive with normal development and renal function.

Conclusion: Clinicians should be aware of extreme intrafamilial variability of PH1 and international registries are needed to characterize the genotype-phenotype correlation in such disorder.

Keywords: PH1; intrafamilial variability; oxalosis; primary hyperoxaluria.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Sagittal ultrasound of the right kidney revealing presence of multiple crescent-shaped hyperechoic foci involving the renal pyramids consistent with renal medullary nephrocalcinosis.
Figure 2
Figure 2
Radiological findings in patient 2. Notes: (A) Ultrasound of the right kidney obtained in sagittal view demonstrates diffuse echogenicity involving the renal parenchyma. (B) Coronal reconstructed unenhanced computed tomography scan of the abdomen showed diffuse increased attenuation of both kidneys with more medullary increased density as compared to the renal cortex consistent with advanced nephrocalcinosis.
See this image and copyright information in PMC

References

    1. Xu Y, Xiao YJ, Zhu K, et al. Unfolding the pathophysiological role of bioactive lysophospholipids. Curr Drug Targets Immune Endocr Metabol Disord. 2003;3(1):23–32. - PubMed
    1. Danpure CJ. Primary hyperoxaluria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001.
    1. Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J. Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. J Inherit Metab Dis. 1994;17(4):487–499. - PubMed
    1. Coulter-Mackie MB, White CT, Hurley RM, Chew BH, Lange D. Primary Hyperoxaluria Type 1. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™. Seattle: University of Washington; 1993. - PubMed
    1. Coulter-Mackie MB, Rumsby G. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. Mol Genet Metab. 2004;83(1–2):38–46. - PubMed

Publication types