Predictive Factors of Renal Graft Failure in Tunisian Children and young adults: A Retrospective Study.

INTRODUCTION: Pediatric end-stage renal disease is a rare but severe condition that causes numerous complications and impairs the quality of life of children. Kidney transplantation is the therapy of choice in pediatric end-stage renal disease. AIM: Our study aimed to identify the predictive factors of renal graft failure after kidney transplantation in Tunisian children and young adults. METHODS: We conducted a retrospective bicentric study of children and young adults (age≤20 years) who had undergone renal transplantation between 1989 and 2019 in Tunisia. We analyzed long-term survival rates and complications after pediatric kidney transplantation and searched for predictive parameters for graft dysfunction. We used a univariate and a multivariate analysis to identify predictive factors of graft survival. RESULTS: A total of 112 patients underwent 115 kidney transplantations. Graft failure occurred in 30% of the cases. The overall 1-, 3-, 5- and 10-year graft survival rates were 92%, 89.1%, 85.9% and 74.5% respectively. The following parameters strongly influenced graft survival: immunosuppressive regimen including an association other than Mycophenolate mofetil- tacrolimus and corticosteroids (p=0.002), year of transplant (p<0.0001 for 1987-2000), deceased donor (p = 0.039), underlying etiology of end-stage renal disease (p=0.045), occurrence of acute or chronic rejection (p<0.001), a urine protein greater than 0.3 g/l per day (p=0.002), post-transplant urologic complications (p=0.002), five-year creatinine level>1.28 mg/dl (p<0.001). The overall 1-, 3-, 5- and 10-year patients survival rates were 97%, 95%, 90.2% and 84.4% respectively. CONCLUSIONS: Our study identified several predictive factors of graft failure in Tunisian children and young adults undergoing renal transplantation.

The Tunnelled Atrial Catheter: A Promising Solution for Vascular Capital Depletion in Dialysis despite Associated Thrombi.

Introduction: Longer survival in dialysis led to a higher incidence of vascular access complications and failure. With the limited access to kidney transplantation programs and peritoneal dialysis, exhaustion of vascular access for hemodialysis is an increasingly common situation. Among the available options, atrial tunneled dialysis catheter (ATDC) has been reported as an effective vascular access in this population. Methodology. We report the experiences of two nephrology centers in Tunis with ATDC as an ultimate vascular access for dialysis. Case Reports. Two patients with exhausted vasculature underwent ATDC insertion in 2020 and 2022, respectively, as a vascular access of last resort. Both patients underwent CRBI, which resolved with favorable outcomes. One case was complicated by post-operative thrombosis and was successfully treated with thrombolysis. Both patients are currently on dialysis via their ATDC with a catheter patency of 29 months. Conclusion: ATDC is a life-saving and safe vascular access in cases of depleted vasculature. Little more than 50 cases have been reported in the literature during the last 30 years. As the frequency of vasculature exhaustion is expected to increase, preservation of veinous access in patients at risk of chronic kidney disease have never been more crucial.

Recurrent Urolithiasis Revealing Primary Hyperparathyroidism in a Nephrology Department.

Background: Urinary lithiasis constitutes a recurrent pathology affecting a relatively young population. The risk of progression to chronic renal failure and the cost of treatment are the most important issues. Primary hyperparathyroidism (PHPT) is responsible for urolithiasis and nephrocalcinosis in 7% of patients, and it represents the 7th cause of urolithiasis in Tunisia. Unfortunately, it remains an underdiagnosed pathology although it is curable. We aim to determine the clinical, biological, therapeutic, and evolutionary particularities of urinary lithiasis associated with PHPT in a nephrology setting. Methods: This is a monocentric, retrospective, descriptive study which took place in our nephrology department during the period from January 2010 to January 2023. Ten patients were included. All of them underwent blood and urine tests and a morphoconstitutional study of the urinary stones if possible. Results: The median age at diagnosis of PHPT was 42 years (34-54). The median time from the onset of kidney stones to the diagnosis of PHPT was 6.2 years (1-17). The male/female gender ratio was 0.66. Five patients had hypertension, two patients had obesity, one patient had diabetes, and three patients had urinary tract infections. Kidney stones were bilateral in eight cases and unilateral in two cases. Nine patients underwent urological intervention: surgery in 5 cases associated with nephrectomy in one case, extracorporeal lithotripsy in 4 cases, and percutaneous nephrolithotomy in two cases. The diagnosis of PHPT was retained with high or uncontrolled PTH associated with hypercalcemia in 8 cases and normocalcemic PHPT was found in 2 patients. Two patients had parathyroid adenoma and one patient had mediastinal adenoma. Radiology exploration was normal for the others patients. Surgery was performed in 7 patients and histology revealed an adenoma in 5 cases and hyperplasia in one case. The predominant urinary risk factors in our study were hypercalciuria in 6 cases and insufficient diuresis in 4 cases. Conclusion: This study underlines the role of the nephrologist in the exploration of urinary lithiasis and the prevention of recurrences, especially as PHPT is a curable aetiology of urolithiasis and affects a relatively young population. The determination of the epidemiological profile of patients with stones associated with primary PHPT and lithogenic risk factors allows the primary and secondary prevention of stone formation.

An exceptional cause of polyuria-polydipsia syndrome in a 10-year-old boy.

Polyuria-polydipsia syndrome is a frequent symptom in pediatrics, primarily attributed to diabetes mellitus. In the context of diabetes insipidus, this syndrome can stem from central or nephrogenic factors. Sjögren's syndrome, an uncommon autoimmune disease in children, can affect multiple organs. Kidney involvement as described in adults is usually related to glomerular or tubular impairment, often linked to distal tubular acidosis. As a kidney involvement during childhood, Sjögren's syndrome has rarely been reported. Hereby, we present the case of Sjögren's syndrome revealed by polyuria-polydipsia syndrome in a 10-year-old boy.

Uncovering the Spectrum of Hemophagocytic Lymphohistiocytosis: A Nephrology Department's Analysis of 14 Cases.

Introduction: Hemophagocytic lymphohistiocytosis (HLH) is a disease of multi-organ dysfunction due to excessive immune activation causing widespread inflammation and tissue destruction. It is a severe condition associated with high morbidity and mortality. Early identification is crucial for prompt treatment. The objective of this case series is to underscore the intricacy of managing HLH in individuals with renal dysfunction. Methods: This is a retrospective study of patients diagnosed with HLH in a nephrology department over a period of 30 years. We retrospectively reviewed the medical files by applying the Revised HLH-2004 criteria. Results: Among the 14 female patients included, the mean age was 45.2 years (range 23-78). Nine patients presented with sudden onset of fever and chills. Physical examination revealed purpura in 3 cases, hepatomegaly and splenomegaly in 6 and 5 cases respectively, and peripheral lymphadenopathy in 1 case. Hemorrhagic complications were observed in 5 cases, hypertriglyceridemia in 9 cases, and hyperferritinemia in all cases. Hypothyroidism was observed in all cases, and impaired renal function was detected in 11 of them, with 5 experiencing it as a result of lupus nephritis, and 1 case attributed to pre-eclampsia. Hemophagocytosis was confirmed through sternal puncture in 11 cases. Treatment involved etiological therapy with corticosteroids and immunosuppressants and/or anti-infectives. Intravenous immunoglobulins were administered in 6 cases, while 2 cases required coagulation factor transfusions. Unfortunately, 9 patients did not survive. Conclusion: The study highlights the need for increased awareness and prompt recognition of HLH, particularly in patients with associated renal complications.

Decoding Hypercalcemia and Renal Stones in a Young Adult: Could it be Dent's Disease?

Dent's disease is a rare genetic kidney disorder characterized by proximal tubular dysfunction, nephrocalcinosis, recurrent nephrolithiasis, and chronic kidney disease. Hypercalcemia is a rare finding in this disease. In this report, we present a case of possible Dent's disease in a young adult male with hypercalcemia and chronic kidney disease. The diagnosis was evoked based on the presence of low-molecular-weight proteinuria, kidney stones, and renal failure. This case underscores the significance of considering Dent's disease as a potential diagnosis, even in patients with chronic renal disease who exhibit hypercalcemia. It also emphasizes the importance of regular monitoring and management of patients with this condition to prevent further complications.

Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center.

Introduction: Primary hyperoxaluria type 1 (PH1) is a rare and inherited condition of urolithiasis. The aim of our study was to analyze clinical, paraclinical, and evolutionary aspects of PH1 in adult patients in our Nephrology department. Methods: We conducted a retrospective single-center study between 1990 and 2021. We collected patients followed for PH1 confirmed by genetic study and/or histopathological features of renal biopsy and morphoconstitutional analysis of the calculi. Results: There were 25 patients with a gender ratio of 1.78. The median age at onset of symptoms was 18 years. A delay in diagnosis more than 10 years was noted in 13 cases. The genetic study found the I244T mutation in 17 cases and 33-34 InsC in 4 cases. A kidney biopsy was performed in 5 cases, on a native kidney in 4 cases and on a graft biopsy in one case. The analysis of calculi was done in 10 cases showing type Ic in 2 cases. After a median follow-up of 13 years (1 year-42 years), 14 patients progressed to end-stage chronic renal failure (ESRD). The univariate study demonstrated a remarkable association with progression to ESRD in our population (44% vs. 56%) RR = 13.32 (adjusted ORs (95% CI): 2.82-62.79) (p < 0.01). Conclusion: Progression to ESRD was frequent in our series. Early diagnosis and adequate management can delay such an evolution.

Systemic lupus erythematosus presenting as lupus erythematosus tumidus and lupus nephritis: a case report.

BACKGROUND: Lupus nephritis and lupus erythematosus tumidus (LET) are uncommon manifestations of systemic lupus erythematosus (SLE), and their coexistence as the initial presentation of SLE is exceedingly rare. Here, we report such a case, emphasizing the diagnostic challenges and therapeutic implications of this unusual association. CASE REPORT: A 38-year-old North African woman presented in Nephrology department with a history of lower extremity edema, fatigue, and weight loss of 3 kg in 4 weeks. Physical examination revealed LET lesions on the chest and the Neck. Laboratory investigations showed lymphopenia, low C3 and C4 complement levels, positive antinuclear antibodies, anti-dsDNA antibodies, and anti-SSA/Ro antibodies. Renal function tests showed normal serum creatinine and nephrotic proteinuria. Renal biopsy revealed Class V lupus nephritis. Skin biopsy confirmed the diagnosis of LET, with the presence of lymphohistiocytic infiltrates and dermal mucin. The patient was diagnosed with SLE based on the 2019 EULAR/ACR criteria and treated with prednisone (1 mg/kg/day) and hydroxychloroquine. She showed significant improvement in her cutaneous and renal symptoms at 6 and 12 months follow-up. CONCLUSION: The rarity of the coexistence of LET and lupus nephritis as the initial manifestation of SLE, especially in the North African population, underscores the need for further research to elucidate the immunopathogenic mechanisms and prognostic factors associated with this association.

Multiple Myeloma in a Young Adult with Renal Involvement.

Multiple myeloma (MM) results from malignant plasma cell disorder. It represents approximately 10% of hematological malignancies and it is typically diagnosed in the elderly with a median age of 70 years and has a steep increase in incidence with advancing age. N Engl J Med. 2004, 1860; Clin Interv Aging. 2020, 619. The incidence of MM has been increasing over time, mostly due to population aging. Mayo Clin Proc. 2010, 225 However, certain MMs are diagnosed at young age even under 40 years old (2%). Leuk Lymphoma. 1998, 493; Blood. 2010, 5501. We report a case of a MM in a thirty-four-year-old woman whose circumstance of discovery was acute kidney failure.

Tuberculous tenosynovitis of the hand: A challenging diagnosis.

Tuberculous tenosynovitis of the hand is a very rare condition. Herein, we report the case of tuberculous tenosynovitis of the hand in a 32-year-old woman. We highlight the success of anti tuberculosis drugs alone without resort to surgical treatment.

The effects of the CYP3A5*3 variant on tacrolimus pharmacokinetics and outcomes in Tunisian kidney transplant recipients.

INTRODUCTION: Tacrolimus, exhibits interindividual pharmacokinetic variability and a narrow therapeutic index. The influence of the CYP3A5 6986A>G single nucleotide polymorphism (SNP) on this variability remains a topic of debate. AIM: To assess the impact of the aforementioned SNP on tacrolimus area under curve (AUC0-12h), adverse drug reactions (ADRs), and kidney graft outcomes. METHODS: Blood samples were collected from Tunisian kidney transplants over a five-year period during either the early (<3 months) or late (>3 months) post-transplant phases. Through blood concentration (C0) and AUC0-12h of tacrolimus were measured. Patients were prospectively followed to assess graft outcomes. Polymerase chain reaction of restriction fragment length polymorphism was used for CYP3A5 6986A>G genotyping. RESULTS: Fifty Tunisian kidney recipients receiving tacrolimus were enrolled in the study. Acute and chronic graft rejections were observed in eight and three patients, respectively. Twenty-one patients (42%) reported ADRs. C0 and AUC0-12h, showed a significant difference between CYP3A5*1 carriers (mean C0=4 ng.mL-1 and AUC0-12h=94.37 ng.h.mL-1) and CYP3A5*3/3 or poor metabolizers carriers (mean C0=7.45 ng.mL-1; AUC0-12h=151.27 ng.h.mL-1) (p=0.0001; p=0.003, respectively). Supratherapeutic tacrolimus levels were significantly more common in poor metabolizers (p=0.046; Odds-ratio =1.3; confidence interval 95% [1.12-1.66]). The impact of SNP was significant on C0, AUC0-12h, C0/Dose and AUC0-12h/Dose, only in the late phase (p=0.01, 0.002, 0.012, 0.003 respectively). CONCLUSION: CYP3A5*3 variant was significantly associated with tacrolimus pharmacokinetics but had no impact on graft outcomes.

Health related quality-of-life in systemic sarcoidosis in Tunisia.

INTRODUCTION: Sarcoidosis is a systemic granulomatosis that can be associated with large-scale physical and mental disability, affecting the health related quality-of-life (HRQoL) of patients. AIM: To evaluate the HRQoL of tunisian patients with sarcoidosis and to identify the factors that influence it. METHODS: We conducted an analytical, cross-sectional study collecting 31 patients with sarcoidosis according to the ATS/ERS/WASOG criteria. The evaluation of the HRQoL was assessed by two questionnaires in tunisian dialect. The generic score was the Medical Outcome Study 36-Short Form Health Survey (SF-36).The specific score used was the Sarcoidosis Health Questionnaire (SHQ). RESULTS: The HRQoL of our 31 patients was more affected in the three domains of the SHQ compared to the SF-36, which is in favor of the better sensitivity of the SHQ to detect the influence of the extent of sarcoidosis on the HRQoL. Factors associated with more impaired HRQoLwere: age at disease onset, age at interview, comorbidities, altered spirometry results, ocular involvement, chronic cholestasis, splenic nodules, arthralgia, organ count ≥3, lymphopenia and cholestasis at the time of the interview. Taking an immunosuppressant agent, particularly Methotrexate, was associated with HRQoL improvement. The number of relapses was the most correlated factor with an altered HRQoL, and this in several domains. CONCLUSION: For an effective management of patients with sarcoidosis, a bio-psycho-social approach is now necessary in order to assess the real and global impact of the disease and to improve the HRQoL of patients. Disease-specific scores seem more reliable in achieving these goals.

[Type IVa2 urinary lithiasis and associated pathologies: About 3 cases]. / Lithiase urinaire de type IVa2 et pathologies associées : à propos de 3 cas.

INTRODUCTION: Urinary lithiasis is a very common condition. The morpho-constitutional analysis of urinary stones is important for etiological diagnosis. It guides the explorations and the specific management. Type IVa2 stones are rare, have particular morphology and correspond to very targeted pathologies. We propose to report our cases of patients diagnosed with type IVa2 urinary lithiasis. METHODS: Our retrospective work focused on three cases of patients with the morphological type of renal lithiasis IVa2, collected between 2008 and 2020 in the Medicine A Department of Charles Nicolle Hospital in Tunis. RESULTS: All three patients were female; average age 37.6 years. The clinical symptomatology was identical marked by renal colic with recurrent episodes. The presence of a type IVa2 stone, isolated or associated with other components, guided the etiological investigation to look for a secondary or primary cause of distal renal tubular acidosis. We retained the diagnosis of a primary hyperparathyroidism in one case and a primary Gougerot-Sjögren's syndrome in the second case, and probable in the last case. CONCLUSION: Determination of urolithiasis nature (morphological and chemical), although carried out late, was of major interest to us and allowed us to make the diagnosis of distal tubular acidosis.

Thirty years of experience with anti-neutrophil cytoplasmic antibody glomerulonephritis in Charles Nicolle Hospital-Tunisia: a retrospective cohort study.

Introduction: antineutrophil cytoplasmic antibodies (ANCA) associated Glomerulonephritis (GN) is rare but a life-threatening disease especially, particularly in patients with advanced renal failure at presentation. This study aims to evaluate the epidemiological, clinical and histopathological features of renal involvement and investigate factors associated with ESRD. Methods: patients with renal biopsy-proven ANCA associated glomerulonephritis were included retrospectively over a thirty years period. The renal survival, defined as time to reach ESRD, was evaluated based on clinical parameters, histopathological classification as well as the renal risk score. Results: a total of 65 patients with crescentic GN were included in the study. The mean age was 47.9 years ± 22.4 years (range: 18-78) with an M/F sex ratio at 1.13. Hematuria, proteinuria and oliguria were found in respectively 100%, 81.5% and 56.2% of cases. Sixty patients (92.3%) had renal failure at presentation, and 30 patients (46%) required initial hemodialysis (HD) therapy. The pattern of glomerular injury was categorized as mixed in 43.7% of cases, sclerotic in 34.3%, crescentic in 16.6%, and focal class in 6%. Regarding renal risk score, patients were classified in the category low risk, intermediate risk and high risk with respectively 16.9%, 44.6% and 38.4%. All patients received corticosteroids and immunosuppressive treatment. Complete, partial remission and relapses were noted in respectively 15.3%, 18% and 72% of cases. Factors associated with ESRD were serum creatinine level >500 µmol/l (P=0,0016), CRP level >60 mg/l (P = 0,0013), interstitial fibrosis (P=0,0009) and glomerulosclerosis> 10% of total glomeruli (P=0,001). The survival rate was 89%, 60.9% and 32.8% at respectively 1, 5 and 10 years. Death occurred in 10 cases (15%) caused mostly by infections (40%). Initial serum creatinine level>140 µmol/l (P=0,02), alveolar hemorrhage (P=0.001) and infections (P=0,0001) were associated with mortality. Conclusion: in our cohort of ANCA GN, confirms the data showing improved patient survival but constantly high relapse risk. In addition, we observed that ANCA GN classification was predictive, as the risk of progressing to ESRD increased with the ascending category of focal, crescentic, mixed and sclerotic GN.

Renal Amyloidosis: Epidemiological, Clinical, and Laboratory Profile in Adults from One Nephrology Center.

Background: Renal amyloidosis is one of the main differential diagnoses of nephrotic proteinuria in adults and the elderly. The aim of this study with the most important series in our country is to contribute to the epidemiological, clinical, and etiological study of the renal amyloidosis. Methods: In a retrospective study carried out between 1975 and 2019, 310 cases of histologically proven and typed renal amyloidosis were selected for this study. Results: There were 209 men and 101 women with a mean age of 53.8 ± 15.4 years (range, 17-84 years). Of the 310 cases, 255 (82.3%) were diagnosed with AA renal amyloidosis and 55 (17.7%) with non-AA amyloidosis. Infections were the main cause of AA amyloidosis, and tuberculosis was the most frequent etiology. The period from the onset of the underlying disease to diagnosis of the renal amyloidosis was an average of 177 months. The most frequent manifestations at the time of diagnosis were nephrotic syndrome (84%), chronic renal failure (30.3%), and end-stage renal disease (37.8%). After a medium follow-up of 16 months (range, 0-68 months), mortality occurred in 60 cases. Conclusions: Given the high frequency of AA amyloidosis in our country, awareness of the proper management of infectious and chronic inflammatory diseases remains a priority in reducing the occurrence of this serious disease.

Gitelman syndrome, hypomagnesemia, and venous thrombosis: An intriguing association.

Among salt-wasting tubulopathies' complications, venous thrombosis is one of the rarest. We report a case of a young woman with Gitelman syndrome (GS). She presented a deep venous thrombosis in her leg and was treated with heparin with favorable outcomes. We retained hypomagnesemia as the cause of the thrombosis.

[Left ventricular hypertrophy in hemodialysis patient: Prevalence, electrocardiographic, echocardiographic study and associated risk factors]. / Hypertrophie ventriculaire gauche chez les hémodialysés : prévalence, étude électrique, échographique et facteurs de risque.

BACKGROUND: Left ventricular hypertrophy is the most prevalent cardiac abnormality in hemodialysis patients. The diagnosis of this abnormality is possible by electrocardiogram and/or echocardiography. Our study aimed to assess the prevalence of left ventricular hypertrophy in hemodialysis patients and the accuracy of different electrocardiographic criteria. METHODS: This was a cross-sectional retrospective study including 60 hemodialysis patients between 2017 and 2018. A left ventricular mass index higher than 115g/m2 and 95g/m2 respectively in men and women defines echocardiographic left ventricular hypertrophy. We assessed left ventricular hypertrophy prevalence, sensitivity, specificity, and area under the receiver-operating characteristics (ROC) curve of fourteen different electrocardiographic criteria for identification of left ventricular hypertrophy. RESULTS: This was a cohort of 60 patients composed of 27 men and 33 women with a mean age 52.6±15,8years. Hypertension was the most common cardiovascular risk factor (82 %). The prevalence of left ventricular hypertrophy at echography was 65 %. Prevalence of left ventricular hypertrophy at electrocardiographic varied across the different criteria ranging from 5 % (R wave in DI) to 32 % (Perugia score). The highest left ventricular hypertrophy prevalence at electrocardiographic was found with the five following criteria: Perugia score (32 %), Peguero-Lo Presti index (28 %), Sokolow-Lyon index, Cornell index, Framingham-adjusted Cornell voltage (17 %). Sensitivity was ranged from 5 % (R in DI, Gubner-Ungerleider index, and product) to 41 % (Perugia score). The specificity of most criteria was ≥90 % except for the Perugia score (85 %). The sensitivity, specificity, postitive and negative productive values and left ventricular hypertrophy prevalence using the five most accurate criteria combined were respectively 48, 90, 70.28, 77.85 and 33 %. Hypertension, duration of HD, arteriovenous fistula, interdialytic weight gain, systolic blood pressure, hemoglobin <9g/dL and hyperparathyroidism were significantly associated with left ventricular hypertrophy. CONCLUSION: The prevalence of left ventricular hypertrophy detected by echocardiography was high. All electrocardiographic criteria had a low sensibility and a high specificity in the diagnostic of echocardiographic left ventricular hypertrophy. To improve the accuracy of electrocardiographic criteria, it is necessary to combine several electrocardiographic criteria and not often focused on a single classic electrocardiographic index.