International Journal of Urology and Nephrology

International Journal of Urology and Nephrology Vol. 1 (2), pp. 022-025, October, 2013. © International Scholars Journals

Full Length Research Paper

Factor I mutation in Tunisian patient with atypical hemolytic uremic syndrome

Nadia Leban¹, Sabra Aloui², Dalel Touati², Donia El Hayek¹, Habib Skhiri², Gerard Lefranc³, Abdellatif Achour⁴, Mezri Elmay², Jemni Chibani¹ and Amel Haj Khelil¹

¹Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, Monastir, Tunisia.

²Department of Nephrology, Fattouma Bourguiba Universitary Hospital, Monastir, Tunisia.

³Institute of Human Genetics, CNRS and University of Montpellier-II, France.

⁴Department of Nephrology, Sahloul Universitary Hospital, Sousse, Tunisia

*Corresponding author. E-mail: [email protected]. Tel: (+216) 73 46 10 00. Fax: (+216) 73 46 18 30.

Accepted 5 August, 2013

Astract

Atypical hemolytic uremic syndrome or the Shiga toxin-producing Escherichia coli (STEC) negative hemolytic uremic syndrome (HUS) is a rare disorder typically classified as familial or sporadic. Recent literature has suggested that approximately 50% of patients have mutations in factor H (CFH), factor I (CFI), or membrane cofactor protein (encoded by CD46). Importantly, results of renal transplantation in patients with mutations in either CFH or CFI are dismal, with recurrent disease leading to graft loss in the majority of cases. In this study, a case was described of a patient who developed atypical hemolytic uremic syndrome waiting for a kidney graft. A patient suffering from aHUS and his family was screened for CFI, CFH and membrane cofactor protein (MCP) mutations. The sequencing results of CFH, CFI, and CD46 genes revealed that the patient was heterozygous for a missense mutation, a substitution of a proline residue for a leucine residue at amino acid 64 in CFI. However, the molecular investigation for the family showed the presence of the same mutation in the CFI gene in two members. In silico study demonstrate a functional consequence of this abnormal protein. This study reemphasizes the importance of screening patients with atypical hemolytic uremic syndrome for mutations in the CFI, CFH and MCP genes before renal transplantation and shows the challenges in the management of these patients.

Key words: Hemolytic uremic syndrome (Ahus), complement proteins, factor I mutation, transplantation, in silico.

The effect of Lycium barbarum polysaccharides on erectile function recovery in a rat model of cavernous nerve injury

Zhankui Zhao¹, Honglian Yu², Xiegang Ding¹, Bo Liu¹, Fei Xiao¹ and Shiwen Li¹*

¹Department of Urology, Zhongnan Hospital, Wuhan University, 169 Donghu Road, Wuhan 430071,

People’s Republic of China.

²Department of Medical Microbiology, School of Medicine, Wuhan University, 185 Donghu Road, Wuhan 430071, People’s Republic of China.

*Corresponding author. E-mail: [email protected]. Tel: +86-27-6781-3104. Fax: +86-27-6781-3090.

Accepted 14 September, 2013

Abstract

This study aimed to investigate the effect of Lycium barbarum polysaccharides (LBP) on erectile function recovery in a rat model of cavernous nerves (CN) injury. Adult male Sprague-Dawley rats were randomly divided into 3 groups: ten rats underwent sham operation (sham group), ten underwent bilateral CN crush injury (injured control group) and the other ten underwent bilateral CN crush injury with an oral administration of LBP for 12 weeks (LBP application group). Oxidative stress was evaluated by malondialdehyde (MDA) level, super oxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities in serum. Erectile function was assessed by CN electro-stimulation and CN regeneration was evaluated by toluidine blue staining at 12 weeks. After 12 weeks, the peak intracavernous pressure (ICP) and peak ICP per mean arterial pressure in the LBP application group were significantly higher than those in the injured control group, although lower than the sham group. The number of myelinated axons of CN in the LBP application group was more than that in the injured control group but fewer than the sham group. The results demonstrate that the application of LBP after CN crush injury promotes nerve regeneration and erectile function recovery.

Key words: Erectile dysfunction, Lycium barbarum polysaccharides, oxidative stress, nerve regeneration.