Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria

Table 1 Characteristics of index cases and families with suspected PH1

Characteristics of index cases	(n = 46)
*Median and [range]of age( years)*	13 [range 0.25 - 61]
*Sex-ratio (male/female)*	1.09 (24/22)
*Oxalate/creatinine (mmol/mmol)*	0.37 ± 0.71
*Mortality*	(6)
*Systemic symptoms*	(18)
*Age of patients at presentation*	*(n = 46)*	%
< 1 yr	(8)	17.4
1-10 yr	(16)	34.7
11-20 yr	(8)	17.4
> 20 yr	(14)	30.4
*Renal insufficiency*
with nephrocalcinosis only	(8)	17.4
with urolithiasis	(21)	45.6
With both nephrocalcinosis and urolithiasis	(17)	37
*CRF*	(13)	28.2
*ESRD*
Hemodialysis	(26)	56.5
Peritoneal Dialysis	(7)	15.2
Characteristics of families	(n = 40)	%
*Geographic origin of families*
North	(2)	5
Centre	(8)	20
Sahel	(11)	27.5
South	(19)	47.5
*Consanguinity in families*
Present	(30)	75
Absent	(10)	25

Oxalate/creatinine (mmol/mmol) ratio with relevant reference for age as reported by
Belhaj et al 2009 (22): 0-6 months: 0.36; 7-24 months: 0.17; 2-5 years: 0.10; > 5 years: 0.081

ISSN: 1471-2369