Relevant genetic polymorphisms and kidney expression of Toll-like receptor (TLR)-5 and TLR-9 in lupus nephritis.

Toll-like receptor (TLR) genetic polymorphisms may modify their expression causing inflammatory disorders and influencing both susceptibility and severity of lupus erythematosus. We aim to determine whether TLR-5 and TLR-9 gene polymorphisms are implicated in the susceptibility to systemic lupus erythematosus (SLE) and lupus nephritis (LN) and to evaluate their expressions and distributions in renal LN patients' biopsies. The frequencies of two SNP in the TLR-9 gene and one in the TLR-5 gene was examined in 106 SLE patients (among them 37 LN patients) and in 200 matched controls by polymerase chain reaction-restriction fragment-length polymorphisms (PCR-RFLP) analysis. TLR-9 and TLR-5 expressions were assessed by reverse transcription (RT)-PCR and immunohistochemistry carried on LN renal biopsies compared to healthy renal tissue. A significant genotypic and allelic association was revealed between TLR-9-rs352140 and both SLE and LN (P < 0·05). The TLR-9 transcript level was significantly higher in LN biopsies compared to control (P < 0·05). This increase was observed histochemically in the tubulointerstitial compartment. TLR-9 was detectable in LN glomeruli patients but not in normal control glomeruli. No allelic nor genotype association was found with TLR-5-rs5744168 in SLE. but the T allele and the TT genotype were raised significantly in the LN group (P < 0·05). A significant increase in TLR-5 gene expression in LN biopsies, which contrasted with normal kidneys (P < 0·05), was confirmed by an intense and diffuse staining for TLR-5 only in LN tubules (P < 0·05). Our data show that TLR-5 and TLR-9 are susceptible genes to LN and that their expression is dysregulated in LN patients' kidneys, supporting a role of these mediators in the pathogenesis of LN.

[Management of arterial hypertension in Tunisia: the challenge of a developing country]. / Prise en charge de l'hypertension artérielle en Tunisie: le défi d'un pays en voie de développement.

Tunisia is a north-African country where epidemiological and socio-economical transition lead cardio-metabolic diseases at the forefront of health concerns. Cardiovascular disease becomes the leading cause of death. Epidemiological studies noted that 30,6% of adults are hypertensive. Only 38,8% from those diagnosed with hypertension were aware about their disease. From those, 84% take antihypertensive treatment. Tunisian health authorities developed in 1993 a national program for diabetes and hypertension care. Hypertension benefits from a full support by the social security fund for policyholders and the state for the poor. Thus, hypertension followed by public health centers is controlled in 42.9% of cases.

Crystalline Nephropathy in Renal Transplant: A Series of 4 Cases.

Crystals are particles of endogenous inorganic or organic composition that can trigger kidney injury when deposited or formed inside the kidney. The most common forms of crystalline nephropathies (CNs) are nephrocalcinosis and oxalate nephropathy. The causes of early allograft dysfunction are changing constantly, and recently calcium oxalate (CaOx) crystal deposition has been added to this list. CaOx deposition in renal allograft is important and probably under-recognized cause of delayed graft function that requires adequate awareness with early intervention to improve the allograft outcome. Here, we describe four cases of irreversible renal graft injury due to CNs.

[Small-cell lung cancer and rapidly fatal nephritic syndrome]. / Carcinome à petites cellules du poumon et syndrome néphrotique d'évolution rapidement fatale.

Nephrotic syndrome due to membranous glomerulonephritis is observed in 1 to 3% of patients with lung cancer. The nephrotic syndrome usually precedes the discovery of the causal tumor, but diagnosis can be concomitant or during the disease course. We describe a case of small-cell carcinoma of the lung without metastases revealed by a paraneoplastic nephrotic syndrome. Complete remission of the tumor was achieved with chemotherapy and radiotherapy with resolution of the nephrotic syndrome, but tumor progression occurred together with rapidly fatal renal failure. In this case, and the review of the literature, illustrate the association between paraneoplastic nephrotic syndrome and lung cancer, as well as the disease course and prognosis of the lung cancer and the accompanying glomerulopathy.

[A case of recurrent bilateral pneumonia with fever. Diagnosis: microscopic polyangiitis]. / Une pneumopathie récidivante bilatérale et fébrile. Diagnostic: polyangéite microscopique.

Microscopic polyangiitis (MPA) is a rare systemic disease that usually presents as a pulmonary-renal syndrome. We describe 35-year-old men who presented with hemoptysis and bilateral alveolar opacities of the upper part of both lungs. The CT scan showed alveolar and round-glass opacities with a "mosaic-like" pattern. Bronchoalveolar lavage confirmed pulmonary hemorrhage. Renal biopsy was indicated because proteinuria revealed extracapillary glomerulonephritis. Laboratory tests showed a high level of serum antimyeloperoxidase-antineutrophil cytoplasmic antibody. We made a diagnosis of MPA. Cyclophosphamide and corticosteroid therapy was instituted and remission achieved. Through this case report, we discuss the diversity of the radio-clinical features of MPA.

[Combined pulmonary fibrosis and emphysema associated with microscopic polyangiitis]. / Micropolyangéite, syndrome d'emphysème des sommets et fibrose pulmonaire des bases.

BACKGROUND: Combined pulmonary fibrosis and emphysema (CPFE) is a rare entity of unknown etiology. It usually occurs in the context of smoking and, less commonly, connective tissue disease. However, it has been rarely previously described in the context of vasculitis. OBSERVATION: We report a case of CPFE occurring in a 44-year-old man, who was a light smoker without any previous medical history. He presented with fever, chronic cough and breathlessness that progressively evolved to acute respiratory failure. At the initial evaluation, CT scan showed emphysema and patchy bilateral areas of ground-glass opacity. Three years later, the patient simultaneously developed a honeycomb fibrosis and a microscopic polyangiitis with renal involvement justifying the introduction of an immunosuppressive treatment in combination with high dose of systemic corticosteroids. After a stabilization period of 6years, the patient gradually developed chronic respiratory failure with moderate pulmonary hypertension requiring long-term oxygen therapy and nocturnal non-invasive ventilation. CONCLUSION: The association of microscopic polyangiitis to CFPE suggests that autoimmune diseases may have a common pathogenic role in the development of emphysematous and fibrotic lesions in CPFE.

[Rupture of the excretory urinary tract due to a lithiasis of the pelvic ureter]. / Rupture de la voie excrétrice urinaire sur lithiase de l'uretère pelvien.

A case of rupture of the urinary tract related to lithiasis of the pelvic ureter is reported. Outcome was favorable after percutaneous drainage of the urinoma and removal of the stone using a Dormia catheter. Clinical diagnosis was readily established on the patient's history and on ultrasound and intravenous urogram findings.

BK virus-associated hemophagocytic syndrome in a renal transplant recipient.

Hemophagocytic syndrome (HPS) is a life-threatening hematological disorder in immunocompromised patients. Reactive HPS is observed in patients with systemic infection, neoplasia or auto-immune diseases. It is a rare hematological disorder after renal transplantation and must be suspected when fever and pancytopenia are seen in association with viral infections. HPS is usually associated with infection with the Cytomegalovirus and Epstein-Barr viruses. We report here a case of BK-virus-associated HPS.

Secondary oxalosis due to excess vitamin C intake: a cause of graft loss in a renal transplant recipient.

Renal oxalate deposition can be seen with primary hyperoxaluria, malabsorptive states, ethylene glycol toxicity and, rarely, with excessive vitamin C ingestion. We report a case of secondary hyperoxaluria in which the diagnosis was not considered initially because there was no past history of urinary calculi and no evidence of nephrocalcinosis on plain X-ray of the abdomen and ultrasonography. The disease was detected and diagnosed only after kidney transplantation. Secondary oxalosis can cause graft loss or delayed graft function. Biopsy of the allograft should be carefully examined for oxalate deposits even in the absence of a family history. When oxalosis is diagnosed, intensifying hemodialysis (HD) to eliminate calcium oxalate can help in the recovery of renal function in some cases. Systematic vitamin C supplementation in HD patients should be avoided as it can be a cause of secondary oxalosis.

[Pulmonary fibrosis as a presentation of Wegener's granulomatosis]. / Une fibrose pulmonaire révélant une granulomatose de Wegener.

INTRODUCTION: Pulmonary fibrosis secondary to antineutrophil cytoplasmic antibodypositive vasculitis is rarely reported. Most cases have occurred in association with microscopic polyangiitis. CASE REPORT: We report the case of an 82-year-old man presenting with pulmonary fibrosis. The CT scan showed honeycombing and traction bronchiectasis with peripheral and basal predominance. The diagnosis of Wegener's granulomatosis was based on the association of positive antineutrophil cytoplasmic antibodies, urinary sediment abnormalities and renal biopsy findings. CONCLUSION: We emphasize, through this case, the rarity of interstitial fibrosis as a pulmonary manifestation of vasculitis and we discuss the pathogenesis of this association.

[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]. / Analyse des manifestations oculaires associées à la néphronophtise et étude génétique chez trois familles tunisiennes.

PURPOSE: Nephronophthisis is a familial interstitial nephropathy with an autosome recessive mode of transmission. In some cases, it is associated with ocular manifestations such as retinitis pigmentosa in Senior-Løken syndrome. We report ocular abnormalities and genetic results in three affected Tunisian families. PATIENTS AND METHODS: Twenty-two members of these three families underwent a complete ophthalmologic examination (visual acuity, slit lamp biomicroscopy, ophthalmoscopy, and retinal electrophysiology). For genetic study, all individuals were genotyped and underwent a genomic sequence. RESULTS: Twenty-two subjects, nine of whom presented nephronophthisis, were included in this study. Retinitis pigmentosa was found in three cases. Our genetic study demonstrated that patients belonging to family 1 had homozygous deletions in NPHP1, all affected individuals from family 3 were linked to NPHP4 and presented a deletion in exons 2 and 3. Results are pending for patients in family 2. CONCLUSION: Senior-Løken syndrome is a rare hereditary disease that combines familial juvenile nephronophthisis and retinitis pigmentosa. This association was described in the literature in 39%-43% of cases. In our study, it was approximately 33% of cases. The genetic study can sometimes obviate the need for renal puncture, especially when the homozygous deletion of NPHP1 gene is confirmed.

Autosomal dominant Alport's syndrome: study of a large Tunisian family.

Alport's syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport's syndrome is often associated with sensorineural deafness and/or ocular abnormalities. In contrast with the well-known X-linked phenotype, very little is known about the autosomal dominant form caused by mutations in COL4A3 and COL4A4 in the chromosome region 2q35-q37. We describe a Tunisian family with autosomal dominant Alport's syndrome in which males and females were equally affected. Two members reached ESRD at age 40 and 53 years, respectively. Three members experienced isolated microhematuria and one member experienced sensorineural deafness. No eye abnormalities were observed. Immunohistochemical studies showed a normal distribution of the alpha5 (type IV collagen) chain in the epidermal basement membrane. Genetic analysis demonstrated that a common haplotype co-segregated with the disease in the heterozygous state in all affected patients, thereby, confirming an autosomal dominant mode of inheritance. The same haplotype was observed in two asymptomatic children. We conclude that autosomal dominant Alport's syndrome, follows a rare mode of inheritance and exhibits a milder phenotype than usually observed in classic X-linked Alport's syndrome. The frequency of this mode of inheritance should be confirmed by a larger study.

[Actinomycosis after renal transplantation: apropos of 1 case and review of the literature]. / Actinomycose après transplantation rénale: à propos d'une observation et revue de la littérature.

Actinomycosis is a suppurative infection usually due to a facultative anaerobic bacteria, actinomyces israelii. This rare infection has been reported in immunocompetent individuals, with buccal or pharyngeal mucosal erosions. Paradoxically, few cases have been observed after solid organ transplantation: 2 cases after lung, 1 case after heart-lung transplantation and 1 case after renal transplantation. We report on a renal transplant recipient who developed a tongue and oropharynx suppurative abscess, looking like an epithelioma. Histological examination showed granulomatous inflammation with an angiofibroblastic reaction; few colonies of actinomyces were also observed by the pathologist. This lesion disappeared easily and totally after tetracycline treatment.

Asymptomatic gastric angiodysplasia in chronic hemodialysis patients: case reports.

Gastrointestinal (GI) angiodysplasia is a vascular lesion. It is a common cause of GI bleeding in chronic renal failure (CRF). We report three adult chronic hemodialysis patients with asymptomatic angiodysplasia. Over a period of four years, the hemoglobin level was stable and none of our patients received iron supplementation or erythropoietin (EPO) therapy. Incidence of angiodysplasia may be underestimated in the CRF patients. Further studies may be needed.