BMC Nephrology最新文献

{"title":"The value of tissue quantitative diffusion analysis of ultrasound elastography in the diagnosis of early-stage chronic kidney disease.","authors":"Dan-Ling Zhang, Sheng Chen, Jia-Ming Xu, Na-Lin, Hai-Yan Wu, Jin-Mei Zhou, Zhao-Ping Chen, Xu-Ri Huang, Li-Xin Wei, Dai-Xiang Liu","doi":"10.1186/s12882-024-03762-0","DOIUrl":"10.1186/s12882-024-03762-0","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the value of tissue quantitative diffusion analysis of ultrasound elastography in the diagnosis of early-stage chronic kidney disease (CKD).</p><p><strong>Methods: </strong>The observation group comprised 54 patients with early-stage CKD treated at Fuzhou No 7 Hospital, and the control group consisted of 40 healthy individuals who underwent physical examinations at the same hospital. The renal parenchyma of the participants were examined using ultrasonography, color Doppler ultrasonography, and tissue quantitative diffusion analysis of ultrasound elastography. Renal dimensions (diameter, thickness, and renal parenchyma thickness), interlobar artery blood flow parameters, and 11 elastic characteristic values were analyzed and compared between the two groups. The area under the receiver-operating characteristic (ROC) curve, cut-off values, sensitivity, and specificity were calculated using the ROC curve analysis.</p><p><strong>Results: </strong>There were no significant differences in the blood flow parameters of the interlobar artery and the dimensions of renal meridians between the two groups. In the observation group, the mean (MEAN) decreased, while the blue area ratio and skewness, increased, compared to the control group (p < 0.05). In addition, the ROC curve revealed that the blue area ratio, MEAN, and skewness had significant diagnostic value (the area under the curve > 0.7). Notably, the best cut-off value of the MEAN was found to be 106, indicating that a MEAN value less than 106 represented early-stage CKD. Also, this cutoff value had a sensitivity of 80% and a specificity of 81%.</p><p><strong>Conclusion: </strong>Tissue quantitative diffusion analysis of ultrasound elastography can quantitatively evaluate renal parenchymal damage in early-stage CKD using quantitative diffusion parameters, with the MEAN parameter, having a cutoff of 106, being particularly effective. This parameter and cutoff value offer a valuable tool for the early detection and diagnosis of CKD, potentially improving patient outcomes through earlier intervention.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11446147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142360986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of renal tumors in Birt-Hogg-Dube syndrome: Clinical presentation and risk factors in a single-center retrospective cohort.","authors":"Supiya Kijlertsuphasri, Tananchai Petnak, Teng Moua","doi":"10.1186/s12882-024-03775-9","DOIUrl":"10.1186/s12882-024-03775-9","url":null,"abstract":"<p><strong>Background: </strong>Birt-Hogg-Dube (BHD) syndrome is a rare genetic condition associated with the development of renal tumors. This study aims to determine typical age ranges for detecting renal abnormalities, risk factors for tumor development, and long-term outcomes based on current surveillance strategies.</p><p><strong>Methods: </strong>A single-center multi-site retrospective cohort study was performed on all patients with BHD diagnosed from 2000 to 2023. Baseline demographics, pulmonary function, laboratory, radiologic, and histopathologic findings were collected. Logistic regression was used to assess predictor variables for the development of renal tumors with survival analysis evaluated from the date of BHD diagnosis to date of death or last known follow-up.</p><p><strong>Results: </strong>The study included 149 patients with BHD, 39 (26%) with diagnosed renal tumors, of which 28 had histopathologic confirmation. Mean age at renal tumor detection was 53.61 years. Older age and male sex were predictive of renal tumor development ((odds ratio 1.05; 95% CI, 1.01-1.08, P = 0.002) and (odds ratio 2.59; 95% CI, 1.17-5.73, P = 0.02), respectively). Time to all-cause mortality appeared shorter in those with renal tumors (Log-rank P = 0.02), though no deaths were from cancer or cancer-related complications.</p><p><strong>Conclusions: </strong>Current screening protocols for renal tumors in BHD suggest the most common presenting age range for presentation is late 40s to early 50s, with older age and male sex as risk factors for tumor development.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11446078/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142360983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Observational study of immunosuppressive treatment patterns and outcomes in primary membranous nephropathy: a multicenter retrospective analysis.","authors":"Ayşe Serra Artan, Şafak Mirioğlu, Rabia Hacer Hocaoğlu, Kenan Turgutalp, Saide Elif Güllülü Boz, Necmi Eren, Mevlüt Tamer Dinçer, Sami Uzun, Gülizar Şahin, Sim Kutlay, Şimal Köksal Cevher, Hamad Dheir, Mürvet Yılmaz, Taner Baştürk, Erhan Tatar, İlhan Kurultak, Ramazan Öztürk, Hakkı Arıkan, Serap Yadigar, Onur Tunca, Kültigin Türkmen, Ömer Celal Elçioğlu, Bülent Kaya, Şebnem Karakan, Yavuz Ayar, Cuma Bülent Gül, Halil Yazıcı, Savaş Öztürk","doi":"10.1186/s12882-024-03784-8","DOIUrl":"10.1186/s12882-024-03784-8","url":null,"abstract":"<p><strong>Background: </strong>We evaluated the efficacy of different immunosuppressive regimens in patients with primary membranous nephropathy in a large national cohort.</p><p><strong>Methods: </strong>In this registry study, 558 patients from 47 centers who were treated with at least one immunosuppressive agent and had adequate follow-up data were included. Primary outcome was defined as complete (CR) or partial remission (PR). Secondary composite outcome was at least a 50% reduction in estimated glomerular filtration (eGFR), initiation of kidney replacement therapies, development of stage 5 chronic kidney disease, or death.</p><p><strong>Results: </strong>Median age at diagnosis was 48 (IQR: 37-57) years, and 358 (64.2%) were male. Patients were followed for a median of 24 (IQR: 12-60) months. Calcineurin inhibitors (CNIs) with or without glucocorticoids were the most commonly used regimen (43.4%), followed by glucocorticoids and cyclophosphamide (GC-CYC) (39.6%), glucocorticoid monotherapy (25.8%), and rituximab (RTX) (9.1%). Overall remission rate was 66.1% (CR 26.7%, PR 39.4%), and 59 (10.6%) patients reached secondary composite outcome. Multivariate logistic regression showed that baseline eGFR (OR 1.011, 95% CI: 1.003-1.019, p = 0.007), serum albumin (OR 1.682, 95% CI: 1.269-2.231, p < 0.001), and use of RTX (OR 0.296, 95% CI: 0.157-0.557, p < 0.001) were associated with remission rates; whereas only lower baseline hemoglobin was significantly associated with secondary composite outcome (OR: 0.843, 95% CI: 0.715-0.993, p = 0.041). CYC use was significantly associated with higher remission (OR 1.534, 95% CI: 1.027-2.290, p = 0.036).</p><p><strong>Conclusions: </strong>Higher baseline eGFR and serum albumin levels correlated with increased remission rates. Remission rates were lower in patients treated with RTX, while those on GC-CYC showed higher rates of remission. Due to the study's retrospective nature and multiple treatments used, caution is warranted in interpreting these findings.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11445947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142360984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive role of spiritual health, resilience, and mental well-being in treatment adherence among hemodialysis patients.","authors":"Fahimeh Saedi, Mahlagha Dehghan, Najmeh Mohammadrafie, Xiao Xu, Alaa Hamza Hermis, Mohammad Ali Zakeri","doi":"10.1186/s12882-024-03768-8","DOIUrl":"10.1186/s12882-024-03768-8","url":null,"abstract":"<p><strong>Background: </strong>End-stage renal disease (ESRD) causes numerous physical and psychological problems in patients, so that they must adhere to their treatment regimen to recover their disease, alleviate these problems, and increase their lifespan. The present study aimed to determine the predictive role of spiritual health, resilience, and mental well-being in treatment adherence among hemodialysis patients.</p><p><strong>Methods: </strong>This correlational cross-sectional study investigated some variables related to treatment adherence in 184 patients undergoing hemodialysis referred to two dialysis centers in Kerman, southeastern Iran. A census method was used to select the participants and data were collected using socio-demographic characteristics questionnaire, Adherence to Treatment Questionnaire (ATQ), Conner-Davidson Resilience Scale, Reef Psychological well-being Questionnaire, and Spiritual Well-Being Scale (SWBS).</p><p><strong>Results: </strong>The overall treatment adherence score was 155.42 ± 27.98 and we found a positive significant correlation between spiritual health, resilience, psychological well-being, and treatment adherence (p < 0.001). The mean scores of resilience, spiritual health and psychological well-being were 70.59 ± 17.02, 90.09 ± 12.01, and 77.88 ± 11.72, respectively. Spiritual health, psychological well-being, resilience, gender and marital status predicted 54% of the variance of treatment adherence, with psychological well-being being the best predictor (p < 0.001).</p><p><strong>Conclusions: </strong>Spiritual health, psychological well-being, and resilience are factors that influence treatment adherence of the patients undergoing hemodialysis, with psychological well-being having the greatest contribution to improving patient's treatment adherence. Interventions effective in improving psychological well-being, spiritual health and resilience can improve treatment adherence of patients undergoing hemodialysis. Healthcare workers must pay more attention to the factors affecting treatment adherence of patients undergoing hemodialysis.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11443921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142360985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case.","authors":"Auteurs Sylvain Bodard, Rim Nabbout, Olivier Hélénon, Bertrand Knebelmann","doi":"10.1186/s12882-024-03747-z","DOIUrl":"10.1186/s12882-024-03747-z","url":null,"abstract":"<p><strong>Background: </strong>Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease, characterized by enlarged kidneys with numerous cysts, high blood pressure, and a variety of extrarenal complications. This disease is a significant cause of renal failure and requires accurate differentiation from other cystic kidney diseases, especially when family history does not clearly indicate ADPKD. This is crucial due to differences in prognosis, treatment, and familial implications. Advanced molecular genetics and imaging techniques are employed to diagnose and assess the prognosis of patients and their families.</p><p><strong>Case presentation: </strong>The case study revolves around three patients from the same family-two sisters and one daughter-referred to a nephrology department for ADPKD management. The initial proband, a 42-year-old woman, experienced abdominal discomfort leading to an ultrasound that suggested ADPKD. However, MRI findings indicated standard-sized kidneys with bilateral parapelvic cysts, and no genetic markers for ADPKD were found. Her sister, presenting with controlled hypertension and similar ultrasound findings, also had her initial ADPKD diagnosis refuted by MRI and genetic testing, which revealed no significant mutations. The daughter, however, exhibited a different scenario with enlarged kidneys and multiple cysts characteristic of early-stage ADPKD. Genetic testing confirmed a deleterious PKD1 mutation, suggesting a de novo mutation, as her father showed no signs of the disease.</p><p><strong>Conclusion: </strong>This study highlights the complexity and necessity of thorough diagnostic processes in suspected ADPKD cases to prevent misdiagnosis. The initial symptoms and imaging might misleadingly suggest ADPKD, as seen in the cases of the two older patients. Still, further detailed imaging and genetic analyses revealed no ADPKD, preventing inappropriate treatment and stress. In contrast, the younger patient's distinctive clinical and genetic profile confirmed ADPKD, illustrating the variability within even closely related individuals. Such detailed assessments are crucial in guiding correct treatment decisions and providing accurate familial counseling, emphasizing the importance of considering a broader spectrum of renal cystic disorders before confirming a diagnosis of ADPKD.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11443641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lambda light chain - restricted non - crystalline proximal tubulopathy with cast nephropathy in multiple myeloma: a case report and literature review.","authors":"Mingfu Lan, Yaohui Guo, Caiyun Wang, Xiaoqin Wang, Jing Li, Yanxia Wang","doi":"10.1186/s12882-024-03721-9","DOIUrl":"10.1186/s12882-024-03721-9","url":null,"abstract":"<p><strong>Background: </strong>Multiple myeloma (MM) often causes renal tubular damage, such as the light chain cast nephropathy (LCCN) and the light chain proximal tubulopathy (LCPT). The excessive light chains deposited in the proximal and distal tubules usually manifest with different characteristics, leading to a rare coexistence of the two pathological conditions. Here we report a unique case of a patient with multiple myeloma (MM) who presented with acute kidney injury (AKI) due to dual conditions of λ light chain-restricted non-crystalline LCPT and LCCN. This report reviews the clinical presentation and histological findings, comparing them with previously published cases.</p><p><strong>Case presentation: </strong>A 49-year-old male patient was admitted with a chief complaint of \"fatigue, loss of appetite for 40 days and elevated blood creatinine for 10 days.\" In serum and urine, the λ light chain level and the ratio of κ to λ free light chain were 1235 mg/dl and 93.25 mg/dl, 0.0022 and 0.0316, respectively. Additionally, serum protein electrophoresis showed an M-spike with monoclonal IgD-λ. Bone marrow puncture revealed 30.5% primitive naive plasma cells, indicative of IgD-λ MM. Light microscopy of kidney biopsy specimen showed periodic acid-Schiff (PAS)-negative cytoplasm in some proximal tubules and PAS-negative casts with a rigid appearance in some distal tubule lumens. On immunofluorescence, these proximal tubular epithelial cells cytoplasm and casts stained exclusively with λ-light chains. Electron microscopy did not reveal any crystalline inclusions. Given the clinical and bone marrow puncture findings, the overall pathological presentation was LCPT with LCCN secondary to IgD-λ MM. After chemotherapy and dialysis, the patient's condition was improved and he was tracked in follow-ups.</p><p><strong>Conclusion: </strong>In some tubular renal injuries caused by MM, the morphological changes are subtle and often overlooked. In this paper, we present a rare case of LCPT with LCCN showing λ restriction in patient with MM. Through the clinicopathological analysis of patients, the understanding of the disease can be deepened and the diagnosis rate improved.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11443757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical profile and outcome of kidney transplantation at Muhimbili National Hospital, Tanzania.","authors":"Jacqueline Shoo, Daniel Msilanga, Jonathan Mngumi, Gudila Valentine, Pilly Kidunda, Mahmoud Nyello, Deus Buma, Francis Furia","doi":"10.1186/s12882-024-03765-x","DOIUrl":"https://doi.org/10.1186/s12882-024-03765-x","url":null,"abstract":"<p><strong>Background: </strong>Kidney transplantation is the definitive treatment option for chronic kidney failure, offering improved quality of life and extended survival. Access to kidney transplantation is limited in the Sub-Saharan Africa (SSA) region, with only a few countries with established services. Tanzania started its program five years ago, for the sustainability of the program it is important to understand the outcome. Therefore, this study was conducted to determine the clinical outcomes and survival rates of kidney transplant recipients at Muhimbili National Hospital in Tanzania, in the absence of a national transplant registry, since the inception of the program.</p><p><strong>Methods: </strong>This was a retrospective study conducted among kidney transplant recipients from live donors at Muhimbili National Hospital (MNH) between November 2017 and February 2022. Analyses were performed to assess baseline characteristics, post-transplant complications, and patient and graft survival.</p><p><strong>Results: </strong>In our study of 68 kidney transplant recipients, the majority of recipients were male (63.2%) with a mean age of 45.8 years and under medical insurance (88.2%). The predominant cause of CKD was hypertension (58.2%) with recipients undergoing dialysis for a mean duration of 14.4 months, and basiliximab being the most commonly used induction medication (57.3%). The majority of donors were males (64.7%) and had first-degree relationships with recipients (76.5%). Haploid HLA mismatch was observed in 36.8% of cases. One-year patient and graft survival rates were 91.2% and 96.7%, respectively, with infection being the primary cause of death (n = 5), and more than half of deceased patients died with a functioning graft (n = 4).</p><p><strong>Conclusion: </strong>Our study underscores favorable one-year patient and graft outcomes among kidney transplant recipients at Muhimbili National Hospital, Tanzania. However, challenges persist, notably with infections posing ongoing difficulties for this cohort.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11439196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pain-free today, weak tomorrow: a case of electrolyte disorder due to diclofenac misuse.","authors":"Oriana De Marco, Pasquale Buonanno, Eleonora Riccio, Antonio Pisani, Ivana Capuano","doi":"10.1186/s12882-024-03759-9","DOIUrl":"https://doi.org/10.1186/s12882-024-03759-9","url":null,"abstract":"<p><strong>Background: </strong>The nephrotoxic effects of non-steroidal anti-inflammatory drugs (NSAIDs) are widely acknowledged. In particular, diclofenac is the most commonly prescribed NSAIDs, but no previous findings of electrolyte disturbances were reported following its administration.</p><p><strong>Case report: </strong>We presented the case of a man who experienced significant weakness associated with severe deficiencies in potassium, calcium, and magnesium after misusing diclofenac because of severe back pain.</p><p><strong>Conclusions: </strong>This case emphasizes the need of awareness about the electrolyte imbalances and electrolyte disturbances associated with the misuse of diclofenac, which is a widely available drug. This is a case report which does not need a Clinical Trial Number.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.","authors":"Zein Alabdin Hannouneh, C Elena Cervantes, C John Sperati, Mohamad Hanouneh","doi":"10.1186/s12882-024-03749-x","DOIUrl":"https://doi.org/10.1186/s12882-024-03749-x","url":null,"abstract":"<p><strong>Background: </strong>Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of HypoPP is more strongly associated with a diagnosis of thyrotoxic periodic paralysis (TPP), with most cases occurring in Asian males with pathogenic KCNJ2 or KCNJ18 variants and without a family history of the condition. This case is novel due to the combination of familial HypoPP and hyperthyroidism induced by Graves' disease, a rare occurrence especially in non-Asian populations.</p><p><strong>Case presentation: </strong>A 40-year-old African American man presented with profound muscle weakness after consuming a high-salt meal. He had a significant family history of hyperthyroidism and hypokalemia. On examination, he showed profound weakness in all extremities. Laboratory tests confirmed hypokalemia and hyperthyroidism, and genetic testing identified a pathogenic variant in the CACNA1S gene (c.1583 G > A, p. R528H), with normal SCN4A, KCNJ2 and KCNJ18 sequencing. He was diagnosed with familial HypoPP and hyperthyroidism due to Graves' disease. He was started on PO methimazole 10 mg three times a day and PO acetazolamide 250 mg twice a day. He was advised to follow a low carbohydrate and low salt diet.</p><p><strong>Conclusions: </strong>This case highlights the importance of considering a genetic basis for HypoPP in patients with a family history of the condition, even when hyperthyroidism is present. The combination of familial HypoPP and Graves' disease is rare and emphasizes the need for careful genetic and clinical evaluation in similar cases. Management should focus on correcting hypokalemia, treating hyperthyroidism, and lifestyle modifications to prevent recurrence.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11429431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Higher prevalence of kidney function impairment among older people living with HIV in Uganda.","authors":"Amutuhaire Judith Ssemasaazi, Robert Kalyesubula, Yukari C Manabe, Phoebe Mbabazi, Susan Naikooba, Faizo Ssekindi, Esther Nasuuna, Pauline Byakika-Kibwika, Barbara Castelnuovo","doi":"10.1186/s12882-024-03761-1","DOIUrl":"10.1186/s12882-024-03761-1","url":null,"abstract":"<p><strong>Background: </strong>People living with HIV (PLWH) are at risk of kidney function impairment due to HIV-related inflammation, antiretroviral therapy (ART), diabetes mellitus, and hypertension. Older persons may experience a higher burden of chronic kidney disease (CKD) as kidney function declines with increasing age. There is a paucity of data comparing the prevalence of kidney function impairment in older PLWH to that in people without HIV in sub-Saharan Africa.</p><p><strong>Methods: </strong>We conducted a cross-sectional study among people aged ≥ 60 years living with and without HIV in Kampala, Uganda who were matched 1:1 by community location. We collected data on sociodemographics, comorbidities, and HIV-related clinical characteristics. We defined kidney function impairment as an estimated glomerular filtration rate(eGFR) < 60mls/min/1.73m² with or without proteinuria. We constructed multivariable logistic regression models to study associations between participant characteristics and kidney function impairment.</p><p><strong>Results: </strong>We enrolled 278 people (median age 66 years); 50% were PLWH, and 51.8% were female. Among PLWH, 33.1% (95% CI: 25.7-41.4%) had kidney function impairment versus 12.9% (95% CI: 8.3-19.7%) among people without HIV, (p-value < 0.01). The prevalence of proteinuria among PLWH versus people without HIV was 43.9% (95% CI:35.8-52.3%) versus 19.4% (95% CI:13.6-26.9%) p-value < 0.01. Living with HIV (OR = 3.89(95% CI: 2.04-7.41), p-value < 0.01), older age (OR = 1.13, (95% CI:1.07-1.20), p-value < 0.01), female sex (OR = 1.95, (95% CI:1.06-3.62), p-value = 0.03) and a prior diagnosis of hypertension (OR = 2.19(95% CI:1.02-4.67), p-value = 0.04) were significantly associated with kidney function impairment.</p><p><strong>Conclusions: </strong>HIV infection is strongly associated with kidney function impairment among older PLWH. Prioritizing routine measurements of kidney function and proteinuria in older PLWH will enable early detection and institution of measures to reduce the progression of kidney disease.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}