Dorfman-Chanarin Syndrome with Renal Involvement: A Rare Case Report and Literature Review.

Dorfman-Chanarin syndrome (DCS) is a rare autosomal recessive disease. It is a multisystemic disease in which renal involvement is uncommon. We report the case of a woman with nephrotic syndrome associated with DCS. A 36-year-old woman was referred to the nephrology department for edema with known history for DCS. On physical examination, she had ichthyosiform erythroderma with generalized scaly skinand ascites. The ophthalmologic examination revealed a cataract in the right eye. Abdominal ultrasound examination showed hepatomegaly and splenomegaly. Laboratory tests showed normal renal and liver function. The blood cell count showed pancytopenia. Immunologic exams showed the presence of anti-mitochondrial antibodies. Kidney biopsy showed mesangial proliferative glomerulonephritis with extensive lipid vacuoles in the tubular epithelial cells. Immunofluorescence study showed mesangial deposits of IgG, C3, kappa, and lambda. To the best of our knowledge, this is the first case of DCS with renal involvement reported in an adult.

[Cutaneous leishmaniasis after renal transplantation: Report of 7 cases and review of the literature]. / Leishmaniose cutanée après transplantation rénale : à propos de 7 cas et revue de la littérature.

Leishmaniasis is a zoonosis acquired from the bite of a sandfly that introduces the amastigote forms of leishmania into the bloodstream. It is a frequent infection in the countries of the Mediterranean basin and in Tunisia, where it is rife in an endemo-epidemic mode. However, it is rare after kidney transplantation. It constitutes a challenge due to the diagnostic difficulty, the variability and the polymorphism of the clinical picture in immunocompromised patients. We report seven observations of cutaneous leishmaniasis after kidney transplantation through which we try to identify diagnostic and therapeutic difficulties.

Primary membranoproliferative glomerulonephritis in Sfax, Tunisia: epidemiologic profile and prognostic factors.

INTRODUCTION: membranoproliferative glomerulo nephritis (MPGN) is a rare kidney disease with a poor prognosis as 50% of patients attend the end stage renal failure after 10 years of follow up. Several factors have been described associated with poor renal prognosis. The aim of our study is to determine the epidemiologic profile and to identify prognostic factors of MPGN. METHODS: our study is retrospective over a period of 16 years (January 1996 - December 2011) including all cases of primary MPGN aged more than 15 years, collected at the nephrology department of Hedi Chaker University Hospital, Sfax, Tunisia. RESULTS: we collected 118 cases of primary MPGN, with mean age of 45 (SD 19) years. The incidence of MPGN has decreased from 10 cases/year between 1996 and 1999 to 5 cases/year between 2008 and 2011. Seventy-nine percent of patients (n=93) had renal failure at the moment of diagnosis (e-GFR less than 60 ml/min/1.73m2;). After a mean follow-up of 51.9 (SD 44) months, progression to end stage renal failure was observed in 43.5% of followed cases (n=20). On univariate analysis, factors associated with death or progression to end stage renal failure were initial renal failure and sclerotic glomeruli (respectively p at 0.040 and 0.032). Multivariate analysis indicated that initial renal failure was significantly correlated with death or progression to end stage renal failure (HR: 0.14, 95% CI (0.033-0.593), p=0.008). CONCLUSION: there has been a decline in the number of cases of MPGN diagnosed in our hospital. The presence of renal failure at diagnosis was associated with death or progression to end stage renal failure.

Treatment of chronic hepatitis C with sofosbuvir in a hemodialysis patient: a case report.

The treatment of chronic hepatitis C virus (HCV) infection in chronic hemodialysis patients remains an issue of great concern for nephrologists. In 2008 the kidney disease improving global outcomes working group suggested the use of pegylated interferon in end stage kidney disease patients treated by dialysis. Since then, series and some clinical trials on different direct-acting antiviral agents have shown better efficacy and tolerance than interferon-based regimens. Data on the efficacy, tolerance and the right dose of sofosbuvir in this population are still unclear. We report a case of chronic HCV genotype 1b infection in a 47-year-old patient on maintenance hemodialysis successfully treated by a combination of sofosbuvir and ledipasvir for 12 weeks. Evolution was marked by the complete regression of the hepatic cytolysis, a complete and sustained virologic response with HCV viral load undetectable for a 24 months follow-up period. No adverse reaction was found. The treatment of HCV genotype 1 or 4 infection in patients on maintenance hemodialysis is possible with sofosbuvir based regimens with a good efficacy/safety ratio in the absence of current recommended drugs for patients with eGFR<30ml/min/1.73m2. The prescription of sofosbuvir should be encouraged amongst this population in this setting.

Unusual Cause of Peritonitis in Peritoneal Dialysis Patient Related to Streptococcus salivarius.

Peritonitis remains the most common serious complication associated with peritoneal dialysis (PD). The Gram-positive peritonitis with Staphylococcus aureus and coagulase-negative Staphylococcus are the most frequent causes, whereas Gram-positive and Gram-negative species remain less frequent. We report an uncommon case of PD-related peritonitis due to Streptococcus salivarius, known as nonpathogen Gram-positive bacteria of oral flora.

[Pregnancy in patients on chronic haemodialysis: about 25 cases which occurred in the south of Tunisia]. / La grossesse en hémodialyse chronique: à propos de 25 cas survenus dans le Sud Tunisien.

INTRODUCTION: the occurrence of pregnancy in patients on chronic haemodialysis is rare. However, given the evolution in dialysis technique, improvement in fertility is possible. The purpose of our study was to report our experience concerning the occurrence of pregnancy in patients on dialysis and to identify factors involved in its success. METHODS: we conducted a retrospective study on 25 spontaneous pregnancies occurred in 19 patients treated with periodical hemodialysis in different hemodialysis centers in the south of Tunisia over a period of 34 years. RESULTS: maternal age at the onset of pregnancy was, on average, 35.6 years [23-44 years] with an average seniority in hemodialysis of 4.22 years [1-17 years]. Seven patients (37%) had residual diuresis (>500 ml/24h). The prescribed weekly number of hours of dialysis was ≥16 hours per week in 7 cases and ≥20 hours in 4 cases. Success of pregnancy (new-born surviving at least 28 days) was estimated at 56%. The median gestational age was 34 weeks of amenorrhea [28-38 WA]. The average neonatal weight was equal to 1970g [1500g-2300g]. Analytical study showed a significant correlation between the increase in the hours of dialysis per week and the success of pregnancy (R=0.59; p=0.002). CONCLUSION: it was noted that with adequate support and in particular, increasing the number of sessions of dialysis, materno-fetal complications can be minimized and the balance risk-benefit can turn the chance for a woman on dyalisis to become pregnant.

Twice weekly hemodialysis is safe at the beginning of kidney replacement therapy: the experience of the Nephrology Department at Hedi Chaker University Hospital, Sfax, south of Tunisia.

We re-examine the infrequent paradigm of a biweekly dialysis at the start of renal replacement therapy. The current method is to launch hemodialysis among patients using a 'full-dose' posology three times a week. As a matter of fact, recent data has suggested that frequent hemodialysis leads to high mortality at the onset of dialysis. The aim of our study is to show the factors affecting early mortality especially the hemodialysis frequency. We undertook an observational study in the hemodialysis unit of Sfax University Hospital (south Tunisia). We enrolled the incident patients during one year. Baseline demographic and clinical characteristics of patients were noted. The survival status of each patient is observed at 6 months after the onset of hemodialysis. We analyzed the factors associated with mortality, especially the hemodialysis frequency (twice or thrice weekly hemodialysis regimen). We enrolled 88 patients with mean age of 56 ± 18 years old. Thirty patients underwent twice weekly dialysis (Group 1) and 58 patients underwent thrice weekly dialysis (Group 2). The mortality at 6 months was similar in the 2 groups (the rate of death = 30% in group 1 vs 13.8% in group 2, p = 0.07). However, the mortality was lower in the group with preserved residual diuresis (35.3% vs 64.7% in the group without residual diuresis, p = 0.02). The mortality was higher in diabetes patients (64.7% vs 35.5%, p = 0.02). It was concluded that twice or threefold weekly treatment have some considerable similar outcomes on the patients survival (at 6 months).

[Henoch-Shonlein purpura in adults in South Tunisia: a series of 14 cases]. / Purpura rhumatoïde de l'adulte dans le sud tunisien: une série de 14 cas.

Henoch-Schonlein purpura (HSP) is a small-vessel vasculitis secondary to IgA deposits. We conducted a retrospective study of 14 cases of HSP in adults based on EULAR/PRINTO/PRES classification criteria for HSP over a period of 18 years (1996 to 2014) in Department of Internal Medicine at the Hedi Chaker University Hospital, Sfax, South Tunisia. The purpose of our study was to highlight the epidemiological, clinical, therapeutic and evolutionary features of HSP in our adult patients. The average age of patients was 33 years (ranging from 17-64 years) with male predominance (sex ratio of 1.8). Vascular purpura with petechiae was constant. Articular manifestations (arthralgia and/or arthritis) were reported in 9 patients (64.2%). Gastrointestinal involvement was reported in 13 patients (92.8%). Renal failure was found in 11 patients (78.5%) revealed by nephrotic proteinuria in 7 cases, microscopic haematuria in 9 cases, high blood pressure in 4 cases and renal impairment in 1 case. The most common histological type was diffuse proliferative endocapillary glomerulonephritis (36.3%). High dose corticotherapy was initiated in 7 patients with proliferative renal impairment, bolus of Solu-Medrol in 4 cases, associated with cyclophosphamide in one case. Two patients with severe gastrointestinal involvement received corticotherapy. After a mean follow-up period of 18.5 months (4-36 months), outcome was favorable in all cases without relapse and chronic renal failure was reported only in one case.

[Epidemiological profile of terminal chronic renal failure in the region of Sfax]. / Profil épidémiologique de l'insuffisance rénale chronique terminale dans la région de Sfax.

INTRODUCTION: Terminal chronic renal failure is a truly global public health problem. In 2011, the cost of management of patients on dialysis has surpassed 90 million dinars (37.000 euro) in Tunisia, nearly 5% of the overall health spending. A better knowledge of the epidemiological profile of terminal chronic renal failure contributes to the implementation and evaluation of health strategies aimed to improve prevention and disease management. This study aimed to describe the epidemiological profile of incident cases in the Sfax Governorate over the period of 10 years. METHODS: We conducted a descriptive retrospective study over the period from January 2003 to December 2012. The incident cases of terminal chronic renal failure in the Sfax Governorate were included in the study. RESULTS: The diagnosis of terminal chronic renal failure was made in 1708 cases: 957 men and 751 women (sex-ratio = 1.27). The average age was 58.4 years [10-100 years]. The study of the evolution of the average age during the study period showed a tendency to increase with positive correlation coefficient (0.749) and p = 0.006. The main causal nephropathy was diabetic nephropathy (21.5%), with a significant increase in its frequency from one year to the other (positive correlation coefficient (0.770) with p = 0.009). Hemodialysis was the dialysis technique of choice, performed in 96% of patients. CONCLUSION: A national registry is indispensable in order to better understand the epidemiological profile of terminal chronic renal failure in Tunisia and to improve its management.

Minimal change disease in horseshoe kidney.

The horseshoe kidney is a frequent urological birth defect. The most frequent complications are urinary tract infections, stones and hydronephrosis. The occurrence of glomerular disease in horseshoe kidney is rare. Therefore, we report the first case of minimal change disease occurring in a patient with horseshoe kidney in literature. A 22-year-old Caucasian man without personal or family medical history admitted to the pneumology department for a pulmonary artery embolism. In presence of a generalized oedema, a biological assessment was performed yielding intense nephrotic syndrome with urine protein excretion 22g/day. The abdominal ultrasound revealed a horseshoe kidney. Hence a scanno-guided kidney biopsy was taken yielding minimal change disease. High dose steroids were started, then gradually tapered with good response. Horseshoe kidney is the most common renal fusion anomaly, with a prevalence of 0.25% among the general population. The occurrence of glomerular nephropathy in horseshoe kidney has been reported in few cases. We report the first case of minimal change disease occurring in a patient with horseshoe kidney in literature. The mechanism of the association between the horseshoe kidney and these renal pathologies could not be explained in the previous reports. There is no literature data indicating a high rate of glomerulonephritis in horseshoe kidneys. The co-incidence of two renal diseases in this patient can be only a coincidence. The question that arises is whether this glomerulopathy is associated or not with this anatomical abnormality. Further studies are needed to answer this question.

Living and cadaver donor transplant programs in the Maghreb.

In the Maghreb, organ failure constitutes a major public health problem, especially given the increasing number of patients with chronic renal failure and the high cost of care. In this study, we attempted to seek the recommendations, through a questionnaire, of various officials related to organ transplantation as well as leaders of ethics committees and religious groups in different countries of the Maghreb. The objective was to improve the rate of organ donation and transplantation. We received 36 replies (62%) within the prescribed time limit. In our survey, 83% of the respondents felt that living donor transplantation should be promoted initially, followed gradually by measures to increase cadaver donor transplantation to achieve a target of about 30 transplants with cadaver kidney donors per million inhabitants. To expand the donor pool, 83% of the respondents proposed to expand the family circle to include the spouse and in laws. To improve the cadaver donation activity, one should improve the organizational aspects to ensure at least 50 renal transplantations per year (100%) and provide material motivation to the treatment team proportional to the activity of organ donation and transplantation. Finally, 93% of the respondents suggested suitable moral motivation of the donors.

Can we improve the diagnosis of renal failure? A revised coding system for the Middle East and North Africa.

We reviewed the regional data on primary renal disease (PRD) causing end-stage renal failure (ESRF) during the decade 2000-2009. Reporting was generally inconsistent and diagnostic groups were poorly defined. We propose a system in which all diagnoses fall into one of eight broad groups: ESRF of uncertain etiology, congenital abnormalities of the kidney and urinary tract (CAKUT) and acquired uropathy, glomerular diseases, tubulo-interstitial disease (TID), other congenital and familial diseases, diabetes, renovascular disease and other specified diagnoses. Each group has sub-headings; for instance, primary glomerulonephritis, secondary glomerulonephritis, and hereditary glomerular disease. For each sub-heading, there is a list of specific diagnoses similar to that used by the European Dialysis and Transplant Association (EDTA) and United States Renal Data System (USRDS) coding systems. We also recommend that "etiology unknown" group should be reported in more detail as either "glomerular phenotype" or "tubular phenotype" and careful attention be paid to evidence for a family history of renal disease. To improve reporting, all patients who are diabetic, and all who have evidence of familial inheritance, should be recorded and a diagnostic category should be chosen. Thus, a diabetic patient is designated as "diabetic nephropathy" only if he/she fulfils the case definition for that diagnosis. We believe that the collection can be done much better as exemplified by the pediatric community, where data collection is very consistent, and there is a low rate of "unknown disease".

Poor prognostic factors of lupus nephritis.

The occurrence of renal involvement during the clinical course of systemic lupus erythematous (SLE) is generally considered to be the most important factor influencing the prognosis in terms of morbidity and mortality. The factors influencing prognosis in lupus nephritis (LN) are variable in literature. Our aim was to determine predictive factors of poor prognosis in LN among our population. In this retrospective study, 82 cases of LN observed over 18 years were studied. There were 12 males and 70 females with a mean age of 26.9 ± 11 years. At presentation, the mean proteinuria was 3.9 ± 4 g/day; the nephrotic syndrome, hematuria, leukocyturia and renal failure were observed in 67.1%, 63.4%, 56.1% and 37.8% of cases, respectively. LN was of class I, II, III, IV and V in 4.9%, 13.4%, 23.2%, 50% and 8.5% of the cases, respectively. Fifteen patients developed end-stage renal failure and/or died. The presence of hypertension, renal failure, massive proteinuria and high activity index score of LN was associated with poor renal prognosis.

Tumoral calcinosis, calciphylaxis, hyperparathyroidism and tuberculosis in a dialysis patient.

Tumoral calcinosis and calciphylaxis are uncommon but severe complications in uremic patients. They occur generally after long-term hemodialysis (HD) treatment explained by advanced secondary hyperparathyroidism and longstanding high calcium phosphorus product (Ca × P). Other factors such granulomatous diseases may worsen the calcium phosphate homeostasis alterations. We report a young male patient treated by HD for 6 years who developed tuberculosis in addition to tumoral calcinosis and calciphylaxis.

Membranous glomerulopathy associated with idiopathic hypereosinophilic syndrome.

Renal involvement is rarely reported and little is known about the renal morphologic changes in the idiopathic hypereosinophilic syndromes. We reported a case of a 52-year-old man with idiopathic hypereosinophilic syndrome associated with membranous glomerulopathy. The eosinophilia and the proteinuria greatly improved with corticosteroid treatment. We review the literature regarding the nephropathy of this hematologic disorder.

Renal alpha-smooth muscle actin: a new prognostic factor for lupus nephritis.

AIM: Systemic lupus erythematosus (SLE) is the prototype of autoimmune disease where renal involvement is frequent and always severe. Histological prognostic factors proposed for lupus nephritis (LN) including the World Health Organization and International Society of Nephrology/Renal Pathology Society--Working Group on the Classification classifications, active (AI) and chronicity (CI) indices may not predict response to treatment. The aim of this study was to correlate alpha-smooth muscle actin (alpha-SMA) expression, an early marker of glomerular and interstitial response to injury, to AI and CI, renal scarring progression and response to treatment. METHODS: Fifty-seven kidney biopsy specimens obtained from 32 patients suffering from LN were studied. Twenty patients with class IV LN at first biopsy were identified to study renal progression to chronic renal failure until the use of immunosuppressive treatment. RESULTS: Interstitial alpha-SMA (I-alpha-SMA) was correlated only with CI (P < 0.001) whereas mesangial alpha-SMA (M-alpha-SMA) was correlated with neither LN activity (P = 0.126) nor sclerosis (P = 0.297). Only I-alpha-SMA was correlated with renal failure (P = 0.01). We divided patients with class IV LN into progressors and non-progressors based on the slope of serum creatinine. At first biopsy, M-alpha-SMA and I-alpha-SMA, but not AI and CI, were correlated with renal failure progression (M-alpha-SMA, 9.7b1.1 vs 7.8b1.4, P = 0.004; and I-alpha-SMA, 9.3b1.1 vs 6.5b3.2, P = 0.011). CONCLUSION: The study data highlight that I-alpha-SMA immunostain in class IV LN patients was correlated with chronicity indices. Moreover, M-alpha-SMA and I-alpha-SMA expression in first biopsy predicted renal progression modality. alpha-SMA expression may therefore be a useful marker to predict renal prognosis in LN.