Primary hyperoxaluria type 1: report of the worldwide largest family

Ikram Agrebi¹, Houda Kanoun^{2

3}, Khaoula Kammoun^{4

2}, Soumaya Yaich^{4

2}, Mouna Turki⁵, Mohamed Amine Mseddi⁶, Fatma Ayedi⁵, Hassen Kammoun³, Faical Jarraya^{4

2}, Mohamed Ben Hmida^{4

2}

Affiliations

¹ Department of Nephrology, Faculty of Medicine, Hedi Chaker University Hospital, University of Sfax, Ain road Km 0.5, Sfax, Tunisia. ikram_agrebi@yahoo.fr.
² Laboratory of Research of Renal Pathology LR19ES11, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
³ Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
⁴ Department of Nephrology, Faculty of Medicine, Hedi Chaker University Hospital, University of Sfax, Ain road Km 0.5, Sfax, Tunisia.
⁵ Department of Biochemistry, Faculty of Medicine, Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.
⁶ Department of Urology, Faculty of Medicine, Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.

Ikram Agrebi et al. Int Urol Nephrol. 2022 Jul.

. 2022 Jul;54(7):1773-1774.

doi: 10.1007/s11255-021-03067-3. Epub 2021 Nov 19.

¹ Department of Nephrology, Faculty of Medicine, Hedi Chaker University Hospital, University of Sfax, Ain road Km 0.5, Sfax, Tunisia. ikram_agrebi@yahoo.fr.
² Laboratory of Research of Renal Pathology LR19ES11, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
³ Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
⁴ Department of Nephrology, Faculty of Medicine, Hedi Chaker University Hospital, University of Sfax, Ain road Km 0.5, Sfax, Tunisia.
⁵ Department of Biochemistry, Faculty of Medicine, Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.
⁶ Department of Urology, Faculty of Medicine, Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.

No abstract available

References

1. Romdhane L, Abdelhak S (2010) Genetic diseases in the tunisian population. Am J Med Genet 1:238–267
1. Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM et al (2015) Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol 26:2559–2570 - DOI
1. Lorenzo V, Alvarez A, Torres A, Torregrosa V, Hernandez D, Salido E (2006) Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation : single-center experience. Kidney Int 70:1115–1119 - DOI
1. Frishberg Y, Shalata A, Khatib I (2005) Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. Am J Nephrol 25:269–275 - DOI
1. Mandrile G, Roberta F, San O, Bosco G, Stratta P, Petrarulo M (2008) Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance. Urol Res 36:309–312 - DOI