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Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease. Keywords: ADPKD, ADPedKD Registry, children, longitudinal

Tumor necrosis factor (TNF)-like weak inducer of apoptosis (sTWEAK) levels has been reported to be decreased in patients on hemodialysis (HD) and patients with heart failure. We aimed to study the relationship between sTWEAK levels and cardiac functions in peritoneal dialysis (PD) patients. This cross-sectional study was carried out on patients on chronic PD programs for more than three months. Patients aged under 18 or over 80 years, patients with overt cardiac disease, overt hypervolemia, active systemic infection, malignancy, peritonitis within the last month were excluded. The patient group was compared with the control group including healthy adults aged 24–61 years. Fifty-two PD patients were included in the study (mean age: 52.7±15.4 years; female/male ratio: 30/22). The corresponding data of the control group were 41.3±10.7 years and 17/14. There was no statistically significant difference between demographic parameters of the groups except age. The mean sTWEAK level of the patient and the control groups were similar (564±17 pcg/ml vs 535±126 pcg/ml, p=0.419). No correlation was detected between any of the demographic variables and sTWEAK levels. Among the echocardiographic parameters, only ejection fraction was found to be correlated negatively with sTWEAK levels. Patients with ischemic heart disease (IHD) and heart failure had significantly higher sTWEAK levels compared with the patients without these diseases. With linear regression analysis, only age and the presence of heart failure were found to be the independent determinants of sTWEAK levels. Level of sTWEAK is significantly high in PD patients with heart failure and IHD. sTWEAK may be a marker of cardiac functions in PD patients.

Pentraxin-3 (PTX-3) is the prototype of long pentraxins and is produced by many tissues and organs including vascular endothelial cells in response to pro-inflammatory signals. It is thought to be an independent indicator of disease activity. We analyzed the correlation of PTX-3 with other markers of inflammation in peritoneal dialysis (PD) patients. Non-diabetic patients on chronic PD program who meet the dialysis adequacy criteria and who had no active infectious/inflammatory disease were included. Demographic and clinical parameters were recorded as well as hsCRP, fibrinogen, interleukin-6 (IL-6) and PTX-3 levels; and the correlation between them were studied. Twenty-five patients (mean age: 45.7±12.5 years; female/male ratio: 16/9) were included. Mean PTX-3 level was 2.16±2.76ng/ml. PTX-3 was found to be correlated positively with only IL-6 among inflammatory markers (r=0.827; p

Objective: The aim of our study was to evaluate the renal response (RR) of three immunosuppressive protocols in the induction treatment of proliferative lupus nephritis (PLN) in a Tunisian population., Methods: We performed a retrospective prognostic cohort study in the Internal Medicine Department of the Habib Thameur University Hospital in Tunis from January 2000 to December 2023, and included kidney biopsy proven proliferative lupus nephritis patients. Three induction treatments were compared: High CYP regimen: glucocorticoids (GC) + IV cyclophosphamide (CYP) in monthly pulses of 0.7 g/m2 for 6 months; Low CYP regimen: GC + IV CYP in biweekly pulses of 500 mg for 3 months; and MMF regimen: GC + oral MMF 1.5 g twice daily for 6 months. The primary endpoint was the incidence of RR (complete and partial remission) at one year post-diagnosis. The additional outcomes were end-stage kidney disease (ESKD), severe adverse events (AEs) and death., Results: Our study included 78 PLN patients (High CYP: 17, Low CYP: 40, MMF: 21). The study found that 94.1% of patients receiving High CYP achieved the primary endpoint, RR, compared to 67.5% of those receiving Low CYP and 61.9% in the MMF group. For the additional outcomes, there were 3 cases of ESKD, all in the Low CYP group, 5 cases of death (4 in the Low CYP group and 1 in the MMF group), and 20 cases of severe AEs, all of which were severe infections (5 in the High CYP group, 12 in the Low CYP group, and 3 in the MMF group). Multivariate analysis showed that the High CYP regimen was more associated with RR than the MMF regimen, with an adjusted OR of 9.846 (95% CI: 1.087-98.210); p = 0.042. Multivariate analysis did not show statistically significant differences between the High CYP regimen and the Low CYP regimen in terms of RR., Conclusion: As an induction treatment for PLN, the High CYP regimen was strongly associated with a higher rate of RR than the MMF regimen. There were no statistically significant differences between the High CYP regimen and the Low CYP regimen in terms of RR., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: The assessment of nail changes in connective tissue diseases (CTD) has been rarely explored in previous studies. The use of dermoscopy to study vascular changes in nailfolds is an interesting diagnostic technique. The aim of the study was to describe the epidemiological, clinical, and dermoscopic features of nail lesions in CTD., Methods: A prospective study was performed at the Dermatology Department of Habib Thameur Hospital (Tunis, Tunisia) in collaboration with the Internal Medicine Department over a period of 15 months, from July 2020 to September 2021, including patients diagnosed with systemic sclerosis (SS), systemic lupus erythematosus (SLE) and dermatomyositis (DM)., Results: Our study included 48 patients. Nail involvement was found in 44 cases. Dermoscopic nailfold abnormalities were identified in 37 cases. The most common clinical features were ragged cuticle, nailfold erythema, and onycholysis. Additionally, splinter hemorrhage, longitudinal ridging, lunula abnormalities, melanonychia, trachyonychia, leukonychia, increase in transverse curvature, parrot beak nail, half and half nails, and onychorrhexis were described. Nailfold dermoscopy showed a normal pattern in 10 cases, a nonspecific pattern in nine cases (SLE), and a scleroderma pattern in 29 cases (SS and DM). The scleroderma pattern was further categorized into an early pattern (6), an active pattern (14), and a late pattern (9). Normal pattern was observed solely in patients in remission. The late scleroderma pattern was associated with disease duration and systemic involvement. In SLE, disease activity correlated with onycholysis, nailfold erythema, and pathologic pattern in dermoscopy. However, patients with DM displayed a positive correlation between pulmonary involvement and scleroderma pattern., Conclusion: Nail involvement in CTD includes a diverse range of abnormalities. Despite being nonspecific, it can provide crucial clues for establishing a diagnosis. Nailfold dermoscopy serves as a mirror for microangiopathy, enabling the detection of changes at an initial stage, and thus, it becomes a diagnostic and prognostic tool., (© 2024 the International Society of Dermatology.)

Rapid and early detection of pathologies for screening purposes is not always easy with traditional methods. New low-cost optical techniques that are suitable for preventive detection and, more specifically, for developing countries must be developed. The objective of this work is to propose UV-VIS fluorescence of hair as a promising technique for a simple and rapid preliminary diagnosis of type II diabetes. In this work, we analyzed 130 hair samples taken from volunteers of different ages at the Habib Thameur Hospital in Tunis, Tunisia. These samples were analyzed clinically beforehand, and 50 were classified as healthy acting as a control, 24 were classified as low-level diabetics with a glycated hemoglobin A1C (HbA1c) <7 % , and the other 56 were classified as high-level diabetics having an HbA1c >7 % . The fluorescence of the patients' hair led to several interesting results. Indeed, a clear discrimination was obtained not only between the healthy and patients with a disease, but also a discrimination between diabetics with low levels and high levels or diabetics with and without complication. Also, a strong correlation between fluorescence spectra and glycated HbA1c for the diabetic population was clearly established. A linear discriminant analysis shows that it is possible to predict the status of test patients after having trained a fraction of the population. All these results show the ability of the front-face fluorescence (FFF) technique to detect disease and predict advanced states simply by capturing the fluorescence of the hair illuminated by a single LED. This work shows for the first time, to our knowledge, the capability of the FFF technique on hair samples for the diagnosis of diabetes.

Introduction: to describe the epidemiological, clinical, therapeutic and evolving characteristics of Behçet´s disease and identify prognostic factors., Methods: we have realized a retrospective, single-center study, conducted over a period of 26 years and including 130 patients presenting Behçet´s disease and hospitalized in an Internal Medicine Department., Results: the mean age of the Behçet´s disease at onset was 30.3 ±8.8 years and that at diagnosis was 34.6 ±9.4 years. The sex ratio (male/female) was 2.5. The mean delay of diagnosis was 53.5 months. Oral aphthosis was constant. The frequency of the manifestations was: genital aphtosis 71.5%, pseudofolliculitis 84.6%, erythema nodosum 11.5%, positive pathergy test 50%, ocular disease 36.9%, venous thrombosis 30%, arterial disease 4.6%, joint damage 30.8%, neurological disease 19.2% and digestive disease 0.8%. The male gender was significantly associated with ocular involvement (p =0.02), venous disease (p =0.01) and occurrence of relapses (p =0.01). The mean follow up was 68.5 ± 77.3 months. The poor survival prognostic factors were male gender, ocular involvement, venous disease, cardiovascular disease, a duration of follow up ≤12 months and a diagnostic delay ≤ 24 months. Conclusion: improving the prognosis of Behçet´s disease requires a shortening of the time to diagnosis, multidisciplinary collaboration, intensive treatment of functional threats, regular monitoring, and patient adherence., Competing Interests: The authors declare no competing interests., (Copyright: Fatma Daoud et al.)

The aim of this study was to determine the prevalence and the etiologic profile of hypertension (HTN) in systemic lupus erythematosus (SLE). A retrospective analysis was performed on 153 patients with SLE who attended our center for 16 years from January 2000 to December 2016. The diagnosis of SLE was established according to the classification criteria of the American College of Rheumatology in 1990. The prevalence of HTN in patients with SLE was 26.1% (40/153)' with an average delay of appearance of 21 months. There were 37 women and three men with a mean age of 46' eight years (20-70). HTN was associated with lupus nephritis (n = 8)' other renal impairments (n = 6)' and corticosteroid treatment (n = 20). Essential HTN was found in six cases. Cardiovascular factors associated with HTN were: diabetes (n = 14)' sedentary life (n = 15)' obesity (n = 12)' and dyslipidemia (n = 8). Main clinical manifestations associated with HTN were: arthralgia/arthritis (24 cases)' cutaneous involvement (22 cases)' and hematological manifestations (16 cases). Anti-phospholipid syndrome was found in 12 cases. Coronary artery disease' arteritis of lower limb' and transient ischemic attacks complicated the course of HTN in six patients. Angiotensin-converting-enzyme inhibitors were the most commonly used drug for treatment in this group. HTN was frequently associated with corticosteroid treatment in this study. We feel that the use of corticosteroids should be avoided as far as possible in all patients with SLE.

Churg-Strauss syndrome (CSS) or eosinophilic granulomatosis with polyangiitis is a systemic vasculitis characterized by necrotizing arteritis, eosinophilic infiltration and extravascular granuloma; that may involve several organs. Cardiac involvement is the first cause of death in this vasculitis. These include myocarditis, pericarditis, coronary heart disease, dysrhythmias, and rarely valvular involvement. We report the observation of CSS revealed by acute perimyocarditis., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Introduction: Renal involvement is a common and serious manifestation of systemic lupus erythematosus (SLE) and it is life-threatening., Aim: To identify the predictive factors of the lupus nephritis (LN)., Methods: A descriptive, analytical, single-centre, retrospective study of 115 patients with SLE (ACR 1997) was carried out in an internal medicine department for a period of 20 years from 1997 until 2017. LN was diagnosed by proteinuria ≥ 0.5 g /24h and / or urine sediment abnormality. Eighty patients did not have kidney damage during the follow-up and thirty-five developed renal involvement after SLE diagnosis., Results: The univariate analysis retained several epidemiological, clinical and biological correlation parameters, according to the development of lupus nephritis, statistically significant. They are as follows, the male gender, the age of diagnosis of SLE less than or equal to 34 years, the presence of malar rash by the time of SLE diagnosis, naso/pharyngeal ulcerations, leucopoenia, positivity of anti-Sm antibody and low C3 complement.The multivariate analysis had found that age less than or equal to 34 years at the diagnosis of the SLE was the only predictive factor of the onset of LN (OR=5.1 and HR=3.4)., Conclusion: Given the seriousness of the pathology and the complexity of its management, LN should be detected as soon as possible and must be treated appropriately by selecting the lupus population at risk for developing a serious LN.

Cerebral amyloid angiopathy (CAA) is a entity characterized by degenerative Amyloïd deposits in the walls of the meningeal and cortical vessels. It is considered as the second cause of primitives cerebral hemorrhage in elderly. The differential diagnosis between AAC and hypertension-related cerebral small vessel diseases is difficult and represent a true challenge for the clinician. We report two cases of cerebral small vessel diseases revealed by malignant hypertension., (Copyright © 2019. Published by Elsevier Masson SAS.)

Purpose: There are authentic observations of combination of systemic lupus erythematosus (SLE) with systemic sclerosis (SS) and with polymyositis defined as overlap syndromes. The prevalence of pulmonary hypertension is unknown in SS-SLE overlap syndrome because of its rarity. The aim of our study was to precise clinical, paraclinical and evolutive features of pulmonary hypertension in patients with systemic sclerosis-systemic lupus erythematosus (SS-SLE) overlap syndrome., Methods: Sixteen cases of SS-SLE overlap syndrome were retrospectively studied in a period of 16 years (2000-2015). SS-SLE overlap syndrome was diagnosed in the presence of at least 4 criteria of the American College of Rheumatology (ACR) for the diagnosis of SLE and a major criterion or 2 minor criteria of ACR of SS classification. Pulmonary arterial pressure (PAP) was estimated with doppler echocardiography. Pulmonary hypertension (PAH) was defined by a PAP superior than 30mmHg. We distributed groups according to the existence (Group 1) or not (Group 2) of a PAH. Epidemiological, clinical and evolutive features were compared between the two groups with bilateral fisher test (P significant if inferior at 0.05) RESULTS: Sixteen cases of female patients with SS-SLE overlap syndrome with a middle-age of 39 years, extreme (29-58 years) were studied. PAH complicated the evolution of SS-SLE overlap syndrome in six cases with a middle-age of 41 years. Ten patients of the group 2 had an average age of 40 years. The average age of the beginning of the disease was 28 years in the group 1 and 31 years in the group 2. SS preceded SLE in 6 among 16 cases (Group 1: 2/6, Group 2: 4/10). SS was revealed most frequently by Raynauw's Syndrome in both groups (Group 1: 4/6, Group 2: 7/10). Cutaneous and articular involvements were the most frequent observed manifestations of SLE (Group 1: 5/6, Group 2: 6/10). In the group 1, the PAH was discovered approximatively11 years after the beginning of the SS-SLE overlap syndrome. The average PAP was 52mmHg, extreme (32-80mmHg). A right cardiac insufficiency complicated the evolution of the PAH in 3 cases. The PAH was primitive in 3 cases. There was no significant difference concerning the SS-SLE overlap syndrome onset disease symptoms, the frequency of lung involvement and esophageal, neurological, articular and trophic manifestations. PAH was not associated with lupic proliferative renal disease, neither with cutaneous proximal sclerosis nor with anti-Scl70 positivity. Patients were treated with vasodilator treatment in eleven cases: prostacyclin derivates in five cases and endothelin receptor antagonist in six cases. Two patients received corticosteroids and boli of cyclophosphamide for renal involvement and neurologic involvement in each case. Stabilization of PAP was observed in these two cases. Mean follow-up disease was 67 months, extreme (4-124 months) Cutaneous sclerosis evolution was not significantly different between both groups. Global cardiac insufficiency secondary to PAH caused death in one case., Conclusion: According to the results of our study, SS-SLE overlap syndrome complicated with PAH seems to be associated more frequently with limited and distal cutaneous manifestations. Patients that have developed lupus nephropathy and/or had positive anti-Scl70 seem to be protected from appearance of PAH during the SS-SLE overlap syndrome., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Introduction: Kaposi's sarcoma (KS) is an angioproliferative disorder first described in 1872 by Moritz Kaposi. Four main clinical presentations of KS have been described: classic, endemic, iatrogenic and epidemic. KS involvement of the lymph nodes is extremely uncommon in the classical variant form, especially if it precedes the skin manifestations. We describe the case of an elderly HIV-negative patient presenting with lymphadenopathy who was found to have KS., Case Report: A 67-year-old patient was admitted for exploration of polyadenopathies in the context of a general decline in health. Physical examination revealed an erythematosus left lower limb rash associated with angiomatous nodules and multiple lymphadenopathies. The diagnosis of erysipelas in the left leg was retained and the patient was treated with good evolution of the rash but persistence of the angiomatous nodules and the polyadenopathies. Skin and lymph node biopsies led to a diagnosis of KS. The patient is proposed for polychemotherapy., Conclusion: KS must be suspected in lymphadenopathies despite the absence of typical cutaneous signs of the disease and in immunocompetent patients., Learning Points: Involvement of the lymph nodes is extremely uncommon in the classical variant form of Kaposi's sarcoma (KS).Human herpes virus-8 is an important cofactor in all forms of KS.Pathology and immunohistochemistry are key to diagnosing KS.KS must be suspected in lymphadenopathies without typical cutaneous signs of the disease and in immunocompetent patients., Competing Interests: Conflicts of Interests: The Authors declare that there are no competing interests.

Pulmonary involvement during systemic sclerosis (SS) is dominated by interstitial lung disease and arterial pulmonary hypertension. It is about a retrospective study analyzing 65 cases of SS over a period of 13 years. We compared cases with and without interstitial lung disease. The diagnosis of SS was retained according to American College of Rheumatology (ACR)/EULAR 2013 criteria. The diagnosis of interstitial lung disease was retained in TDM and EFR. Pulmonary hypertension is defined by a pulmonary arterial pression higher than 25 mmHg. The mean delay of diagnosis of interstitial lung disease and the diagnosis was of 48 months (extremes 0-78 months). The comparison between both groups according to average age of the patients, prevalence of pulmonary hypertension, frequency of Raynaud phenomenon and trophic disorders did not find any significant difference. Lung involvement was associated with an esophageal involvement in 71% of the cases (P=0.059). Antibodies anti-Scl 70 were noted more frequently in patient's with interstitial lung disease (79% of the cases, P=0.001). Patients were treated with colchicine and vitamin E. A corticotherapy had been indicated at a single patient. The evolution of SS was marked by the stabilisation of the restrictive syndrome in 71.8% of the cases and a worsening in 25% of the cases. Early and appropriate diagnosis of SS and screening of lung involvement are essential for a early care., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)