ESPN 51th Annual Meeting

ESPN 2018

Primary Hyperoxaluria type I (PH1) in Tunisian infants : Big dilemma between poor prognosis and limited resources
NOUIR Selsebil 1 MABROUK Sameh 1 JRIBI Ines 1 Mdimagh S 2 AJMI houda 1 TFIFHA Meniar 1 CHEMLI Jaleleddine 1 ZOUARI Noura 1 HASSAYOUN Saida 1 OMMEZINE A 2 BOUSLAMA A 2 ABROUG S 1

1- department of pediatrics- University hospital of Sahloul (Sousse- Tunisia)
2- department of Biochemistry - University hospital of Sahloul (Sousse- Tunisia)



Infantile PHI is a rare autosomal recessive disease occurring during the first year of life with a rapid progression to end-stage renal disease (ESRD). It raises specific problems diagnosis and management particularly in developing countries were the disease is relatively frequent and the resources are limited. This report sought to describe the phenotypic and genotypic characteristics of infantile PHI among Tunisian children 


Material and methods:


Retrospective review of medical charts of Tunisian patients diagnosed with infantile PH1, and managed in the department of pediatric nephrology at the University hospital Sahloul (Sousse – Tunisia) between January 2000 and December 2017.



The record of 27 infants from 26 different families was analyzed. Male to female ratio was 1,7. Consanguinity rate was 66,66%. Family history was positive in 22,2% of cases. Age at symptoms onset was 4,45 ±2,47 months, while mean age at diagnosis was 5.36±2.53 months. ESRD was present at diagnosis in 74% of cases. Otherwise revealing symptoms were seizures (7 cases), digestive signs (4 cases), nephrolithiasis or nephrocalcinosis (3 cases), failure to thrive (3 cases) and urinary tract infection (2 cases).

Mutational analysis performed in 23 cases was positive in 9 cases. 3 mutations were identified. The most frequent mutations were p.Ile244Thr (21,7%), p.Gly190Arg(8,6%) and C33dupC(8,6%)

Only 4 patients were first treated by dialysis, 10 infants received supportive treatment. Therapeutic withdrawal was the final option for 15 of children. 18 infants died with a mean age of 4,41 ±3,16  months.




Infantile PHI is a severe condition with high morbidity and mortality rates. It is relatively frequent in developing countries were management possibilities are limited, hence the decision of therapeutic withdrawal which raises a lot of ethical controversies.