Synchronous bilateral papillary renal cell carcinoma in the native kidneys after 10 Years of renal transplantation: Report of a case and review of the literature.

A case of synchronous bilateral native kidneys papillary RCC is presented in a 48 year old patient who underwent a living donor kidney transplant 10 years prior. He was on regular immunosuppressant therapy. Despite the long term follow-up, bilateral cystic and exophytic masses were incidentally found on CT scan. Subsequent bilateral open radical nephrectomy revealed papillary RCC in both kidneys.

Preclinical Detection of Early Glomerular Injury in Children with Kidney Diseases-Independently of Usual Markers of Kidney Impairment and Inflammation.

Glomerular kidney diseases typically begin insidiously and can progress to end stage kidney failure. Early onset of therapy can slow down disease progression. Early diagnosis is required to ensure such timely therapy. The goal of our study was to evaluate protein biomarkers (BMs) for common nephropathies that have been described for children with Alport syndrome. Nineteen candidate BMs were determined by commercial ELISA in children with congenital anomalies of the kidneys and urogenital tract, inflammatory kidney injury, or diabetes mellitus. It is particularly essential to search for kidney disease BMs in children because they are a crucial target group that likely exhibits early disease stages and in which misleading diseases unrelated to the kidney are rare. Only minor differences in blood between affected individuals and controls were found. However, in urine, several biomarker candidates alone or in combination seemed to be promising indicators of renal injury in early disease stages. The BMs of highest sensitivity and specificity were collagen type XIII, hyaluronan-binding protein 2, and complement C4-binding protein. These proteins are unrelated to inflammation markers or to risk factors for and signs of renal failure. In conclusion, our study evaluated several strong candidates for screening for early stages of kidney diseases and can help to establish early nephroprotective regimens.

Unveiling the uncommon: Gas-containing renal stones-A unique case study.

Gas-containing renal stones are a rare condition. There is an association between renal stones containing gas, urinary tract infection, and renal fusion anomalies, so it is essential to know the radiographic features for prompt diagnosis and treatment.

Elevated Exposure to Air Pollutants Accelerates Primary Glomerular Disease Progression.

Introduction: Environmental contributors to kidney disease progression remain elusive. We explored how residential air pollution affects disease progression in patients with primary glomerulopathies. Methods: Nephrotic Syndrome Study Network (NEPTUNE) and CureGlomerulonephropathy (CureGN) participants with residential census tract data and ≥2 years of follow-up were included. Using Cox proportional hazards models, the associations per doubling in annual average baseline concentrations of total particulate matter with diameter ≤2.5 µm (PM2.5) and its components, black carbon (BC), and sulfate, with time to ≥40% decline in estimated glomerular filtration rate (eGFR) or kidney failure were estimated. Serum tumour necrosis factor levels and kidney tissue transcriptomic inflammatory pathway activation scores were used as molecular markers of disease progression. Results: PM2.5, BC, and sulfate exposures were comparable in NEPTUNE (n = 228) and CureGN (n = 697). In both cohorts, participants from areas with higher levels of pollutants had lower eGFR, were older and more likely self-reported racial and ethnic minorities. In a fully adjusted model combining both cohorts, kidney disease progression was associated with PM2.5 (adjusted hazard ratio 1.55 [95% confidence interval: 1.00-2.38], P = 0.0489) and BC (adjusted hazard ratio 1.43 [95% confidence interval: 0.98-2.07], P = 0.0608) exposure. Sulfate and PM2.5 exposure were positively correlated with serum tumour necrosis factor (TNF) (P = 0.003) and interleukin-1ß levels (P = 0.03), respectively. Sulfate exposure was also directly associated with transcriptional activation of the TNF and JAK-STAT signaling pathways in kidneys (r = 0.55-0.67, P-value <0.01). Conclusion: Elevated exposure to select air pollutants is associated with increased risk of disease progression and systemic inflammation in patients with primary.

Clinical characteristics of renal cell carcinoma in the transplanted kidney in renal transplant recipients: a systematic scoping review.

Background: Renal transplant recipients confront a substantially elevated susceptibility to renal cell carcinoma (RCC), particularly in their native kidneys as opposed to allografts. Methods: In this systematic scoping review, exhaustive searches were conducted of the MEDLINE and EMBASE databases. Information was gathered on clinical manifestations, donor demographics, diagnostic intervals, tumor dimensions, histopathological characteristics, and therapeutic outcomes associated with RCC arising in allograft kidneys. Results: The searches yielded a corpus of 42 case reports and 11 retrospective cohorts, encompassing a cohort of 274 patients. The majority of cases (75.4%) were clinically latent, discerned primarily through imaging modalities. Symptomatic presentations encompassed manifestations such as hematuria, elevated serum creatinine levels, abdominal discomfort, and graft-related pain. The mean temporal interval between renal transplantation and RCC diagnosis was calculated at 11.6 years, albeit displaying considerable variance. Notably, papillary and clear cell RCC emerged as the prevailing histopathological subtypes. However, the paucity of longitudinal follow-up data represents a notable caveat. Conclusion: This investigation underscores the imperative of rigorous posttransplant surveillance regimes owing to the substantial prevalence of asymptomatic RCC instances. Future research should focus on clinical outcomes and cost-effectiveness of screening practices to develop preventive strategies.

Solitary Functioning Kidneys Attenuate Renal Hemodynamics Responses to Angiotensin II in Male But Not in Female Rats.

Backgrounds: People with solitary functioning kidneys (SFK) are prone to renal failure with time. Accordingly, local renin angiotensin system (RAS) and renal functions in subjects with SFK may act differently compared to normal condition. This study was designed to determine the renal hemodynamics responses to angiotensin II (Ang. II) in SFK male and female rats. Methods: Fifty to sixty-day-old male and female Wistar rats were subjected to unilateral renal artery obstruction, and 28 days later basal renal hemodynamic responses to Ang. II were examined in SFK groups compared to sham groups. Results: The findings indicated lower renal vascular resistance (RVR) and renal blood flow (RBF) responses to Ang. II in male SFK compared to sham group. Such observation was not seen in female animals. Conclusions: An increase in renal metabolism due to hyperfunction, especially in SFK male rats, may cause a decrease in RVR. Moreover, the lower RBF response to Ang. II may be related to alteration to Ang. II receptors in the remnant kidneys in SFK rats.

The Sigma-1 Receptor Exacerbates Cardiac Dysfunction Induced by Obstructive Nephropathy: A Role for Sexual Dimorphism.

The Sigma-1 Receptor (Sigmar1) is a stress-activated chaperone and a promising target for pharmacological modulation due to its ability to induce multiple cellular responses. Yet, it is unknown how Sigmar1 is involved in cardiorenal syndrome type 4 (CRS4) in which renal damage results in cardiac dysfunction. This study explored the role of Sigmar1 and its ligands in a CRS4 model induced by unilateral ureteral obstruction (UUO) in male and female C57BL/6 mice. We evaluated renal and cardiac dysfunction markers, Sigmar1 expression, and cardiac remodeling through time (7, 12, and 21 days) and after chronically administering the Sigmar1 agonists PRE-084 (1 mg/kg/day) and SA4503 (1 mg/kg/day), and the antagonist haloperidol (2 mg/kg/day), for 21 days after UUO using colorimetric analysis, RT-qPCR, histology, immunohistochemistry, enzyme-linked immunosorbent assay, RNA-seq, and bioinformatics. We found that obstructive nephropathy induces Sigmar1 expression in the kidneys and heart, and that Sigmar1 stimulation with its agonists PRE-084 and SA4503 aggravates cardiac dysfunction and remodeling in both sexes. Still, their effects are significantly more potent in males. Our findings reveal essential differences associated with sex in the development of CRS4 and should be considered when contemplating Sigmar1 as a pharmacological target.

Pathological and functional significance of aging mouse kidneys: clinical implications to reduce the risk of hyper- or hypokalemia in the elderly.

Elderly patients are prone to develop hyper- or hypokalemia, since they are susceptible to drugs or diets that affect the urinary or fecal potassium (K+) excretion. In aging mouse kidneys, in addition to glomerulosclerosis, proximal tubular atrophy, and atherosclerosis in renal arterioles, there was diffuse tubulointerstitial fibrosis with a number of inflammatory leukocytes infiltrating into the cortical interstitium. Since these pathological features greatly influence renal K+ handling, slowing the progression of kidney aging would fundamentally reduce the risk of developing hyper- or hypokalemia. Immunohistochemistry demonstrated the overexpression of K+ channels (Kv1.3) in leukocytes within the cortical interstitium, which was strongly associated with "chronic inflammation" in aging kidneys and the subsequent progression of renal fibrosis. In our basic studies, antihypertensive drugs (benidipine, nifedipine, verapamil, diltiazem) and anticholesterol drugs (lovastatin, simvastatin, pravastatin) strongly suppressed the leukocyte Kv1.3 channels and thus exerted anti-inflammatory effects. Given such pharmacological properties of these drugs, they may also be useful in slowing the progression of tubulointerstitial fibrosis in aging kidneys and reducing the risk of hyper- or hypokalemia in elderly patients.

The Use of Kidneys With Lower Longevity From Deceased Donors to Improve Access to Preemptive Renal Transplantation for Elderly Patients: A Qualitative Study.

Background: There is a gap between the number of patients waiting for a transplant and the number of kidneys available. Some deceased donor kidneys are currently nonutilized, as medical teams fear that they will experience suboptimal graft survival. However, these organs could provide an acceptable therapeutic option if they were allocated for preemptive kidney transplantation in elderly candidates. Objective: This project aims to gather patients' perspectives on the allocation of kidneys with lower longevity for preemptive kidney transplantation in elderly patients. Design: Individual interviews. Setting: The Center hospitalier de l'Université de Montréal (CHUM) chronic kidney disease (CKD) clinic. Participants: Patients aged between 64 and 75 years with CKD G4-5 ND, followed at the CHUM and who have not initiated dialysis yet. Methods: Between March and July 2023, we conducted 14 individual interviews with patients aged between 64 and 75 years who had CKD G4-5 ND and were followed at the CHUM. The interviews were digitally recorded and transcribed. Thematic analysis was conducted. Results: Most participants were in favor of using kidneys with lower longevity to increase their access to transplantation, improve their quality of life, enable accelerated transplantation, and avoid dialysis. Patients also wanted to be engaged in the decision-making process, underlining the importance of informed consent. Although the use of kidneys with lower longevity offers the hope of returning to "normal" life, some patients were concerned about the risk of reduced graft survival and the need for a subsequent kidney transplant. In these cases, patients were interested in using mitigation strategies, such as prioritization for kidney transplantation from standard donors in case of early graft loss associated with receiving kidneys with lower longevity. They also recommended the development of a separate waiting list for patients consenting to preemptive transplantation with kidneys with lower longevity. Limitations: This study was conducted in only 1 nephrology clinic in the province of Quebec with French-speaking patients. Consequently, the results may not be generalizable to other populations, including ethnic minorities. Conclusion: The use of kidneys with lower longevity for preemptive kidney transplantation appears to be an interesting option for elderly kidney transplant candidates. However, patient information and participation in the decision-making process are essential. Moreover, organ donation organizations and transplant programs should develop a separate waitlist for transplant candidates who have preconsented to receive organ offers of deceased donor kidneys with lower longevity. Trial registration: Not registered.

Mise en contexte: Il existe un écart entre le nombre de patients en attente d'une greffe et le nombre de reins disponibles. À l'heure actuelle, un certain nombre de reins de donneurs décédés ne sont pas utilisés, car les équipes médicales craignent que la survie des greffons ne soit pas optimale. Ces organes pourraient toutefois constituer une option thérapeutique acceptable s'ils étaient attribués à des candidats âgés pour une transplantation pré-emptive. Objectifs de l'étude: Ce projet vise à connaître la position des patients quant à la transplantation pré-emptive de reins jugés de moindre longévité chez des candidats âgés. Conception: Entretiens individuels. Cadre: La clinique d'insuffisance rénale chronique du Center hospitalier de l'Université de Montréal (CHUM). Sujets: Des patients âgés de 64 à 75 ans atteints d'IRC G4-5 suivis au CHUM et n'ayant pas encore amorcé la dialyse. Méthodologie: Entre mars et juillet 2023, nous avons mené 14 entretiens individuels avec des patients de 64 à 75 ans non dialysés atteints d'IRC G4-5 suivis au CHUM. Les entrevues ont été enregistrées sous forme numérique, puis transcrites. Une analyze thématique a été effectuée. Résultats: La plupart des personnes interrogées étaient en faveur de l'utilisation de reins de moindre longévité en vue d'augmenter leur accès à la transplantation, d'améliorer leur qualité de vie, d'accélérer la transplantation et d'éviter la dialyse. Les patients souhaitaient également participer au processus décisionnel, ce qui met en lumière l'importance du consentement éclairé. Bien que l'utilisation de reins de moindre longévité offre l'espoir d'un retour à une vie « normale ¼, certains patients s'inquiétaient du risque de survie réduite du greffon et, dès lors, de l'éventuelle nécessité d'une nouvelle greffe. Dans ces cas, les personnes interrogées étaient intéressées par des stratégies d'atténuation comme une priorité donnée à la transplantation de reins provenant de donneurs standards en cas de perte précoce du greffon liée au fait d'avoir reçu un rein de moindre longévité. Les personnes répondantes ont également proposé l'établissement d'une liste d'attente distincte pour les patients qui consentent à une transplantation pré-emptive avec des reins de moindre longévité. Limites de l'étude: Cette étude a été menée dans une seule clinique de néphrologie au Québec auprès de patients francophones. Par conséquent, les résultats pourraient ne pas être généralisables à d'autres populations, notamment à des personnes issues de minorités ethniques. Conclusion: L'utilisation de reins de moindre longévité pour la transplantation rénale pré-emptive semble être une option thérapeutique intéressante pour les candidats âgés. Toutefois, il est essentiel que les patients soient bien informés et qu'ils participent au processus décisionnel. Enfin, les organismes de don d'organes et les programs de transplantation devraient établir une liste d'attente distincte pour les candidats ayant préalablement consenti à recevoir des offres d'organes pour des reins de moindre longévité provenant de donneurs décédés.

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1ß Gene Mutation Accompanied.

Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant inherited disorder prevalent among adolescents. Typically, it manifests with hyperglycemia before the age of 25. MODY5 is attributed to a mutation in the Hepatocyte Nuclear Factor-1ß (HNF-1ß) gene. A complete absence of HNF-1ß is observed in 50% of those with MODY5. The 17q12 microdeletion syndrome closely linked with MODY5. Its incidence in the general population is around 1 in 14,500 and is linked with facial deformities, diabetes, polycystic kidneys, pancreatic hypertrophy, liver anomalies, and neuropsychological impairments. The most primary clinical signs are predominantly associated with the HNF-1ß gene deletion. We chronicle the case of a male of 19 years of age diagnosed with diabetes, who, alongside persistent liver damage and polycystic kidneys, was referred from a community hospital to the Xuzhou Central Hospital. His clinical presentation included diabetes, liver dysfunction, polycystic kidneys, lipid irregularities, insulin resistance, and fatty atrophy. Subsequent genetic screening unveiled a 17q12 chromosomal deletion and an absence of the Hepatocyte Nuclear Factor-1ß (HNF-1ß) gene. Hence, for adolescent patients lacking a familial diabetes history but exhibiting symptoms like polycystic kidneys, liver damage, lipid irregularities, and fatty atrophy, a thorough assessment for the 17q12 microdeletion syndrome becomes imperative.

Acute Bilateral Pyelonephritis in the Setting of Newly Diagnosed Diabetes Mellitus: A Case Report.

Introduction: Acute pyelonephritis is a bacterial infection that starts in the bladder and ascends to the kidneys, causing inflammation of the renal parenchyma. Women are more likely to get infected compared to men, with diabetics being at higher risk. The pathophysiology of how diabetics are more prone to getting urinary tract infections/pyelonephritis has been studied, particularly the difference between bilateral pyelonephritis and unilateral pyelonephritis. Case Presentation: This case presentation follows a 51-year-old Spanish-speaking woman with a past medical history of prediabetes, bilateral tubal ligation, and perimenopause. She presented to the hospital for abdominal and back pain, fevers, and weakness that she had for a week. An intake of her history and a physical examination led to the initial diagnosis of cystitis, but the imaging drove the authors to the correct diagnosis of acute bilateral pyelonephritis with Escherichia coli growing in the urine. She was then treated with the appropriate antibiotics. During her hospital stay, she was also diagnosed with type 2 diabetes mellitus. Imaging is not usually used to diagnose pyelonephritis, but it is necessary in some cases and can help identify complications. There are multiple case reports about acute pyelonephritis, but there are few that touch on acute bilateral pyelonephritis. Conclusion: We are highlighting this case presentation since it shows how a patient with newly diagnosed diabetes is at more of a risk of developing acute bilateral pyelonephritis. This information is important not only to add to medical knowledge but also to allow physicians to emphasize diabetic control in order to minimize the chance of developing pyelonephritis.

Combined Urinary Reconstruction During en Bloc Kidney Transplantation From a Pediatric Donor to an Adult Recipient: A Case Report.

Urinary reconstruction during en bloc kidney transplantation is challenging, with different techniques described. Here, we report a case of combined urinary reconstruction using modified Lich ureteroneocystostomy and ureteroureterostomy.

A kidney-hypothalamus axis promotes compensatory glucose production in response to glycosuria.

The kidneys facilitate energy conservation through reabsorption of nutrients including glucose. Almost all the filtered blood glucose is reabsorbed by the kidneys. Loss of glucose in urine (glycosuria) is offset by an increase in endogenous glucose production to maintain normal energy supply in the body. How the body senses this glucose loss and consequently enhances glucose production is unclear. Using renal Slc2a2 (also known as Glut2) knockout mice, we demonstrate that elevated glycosuria activates the hypothalamic-pituitary-adrenal axis, which in turn drives endogenous glucose production. This phenotype was attenuated by selective afferent renal denervation, indicating the involvement of the afferent nerves in promoting the compensatory increase in glucose production. In addition, through plasma proteomics analyses we observed that acute phase proteins - which are usually involved in the body's defense mechanisms against a threat - were the top candidates which were either upregulated or downregulated in renal Slc2a2 KO mice. Overall, afferent renal nerves contribute to promoting endogenous glucose production in response to elevated glycosuria and loss of glucose in urine is sensed as a biological threat in mice. These findings may be useful in improving the efficiency of drugs like SGLT2 inhibitors that are intended to treat hyperglycemia by enhancing glycosuria but are met with a compensatory increase in endogenous glucose production.

The Cellular Genesis of Metabolic Syndrome and the Role of Anti-urate Drugs in Hyperuricemia Patients: A Systematic Review.

Hyperuricemia results due to the underexcretion of uric acid through kidneys or overproduction due to either intake of purine-rich foods, a high caloric diet, or a decreased activity of purine recycler hypoxanthine-guanine phosphoribosyl transferase (HGPRT). Increased xanthine oxidoreductase (XOR) enzyme activity may contribute to hyperuricemia. Literature provides growing evidence that an independent component that contributes to the development of metabolic syndrome (MetS) and associated comorbidities is hyperuricemia. Thus, precise cellular mechanisms involved during MetS and related comorbidities in hyperuricemia, and the role of anti-urate medicines in these mechanisms require further investigations. We searched online libraries PubMed and Google Scholar for data collection. We used Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines for literature identification, selection, screening, and determining eligibility to produce unbiased meaningful outcomes. We applied quality assessment tools for the quality appraisal of the studies. And, outcomes were extracted from the selected studies, which revealed the relationship between hyperuricemia and MetS components by causing inflammation, endothelial dysfunction, oxidative stress, and endoplasmic reticulum stress. The selected studies reflected the role of xanthine oxide (XO) inhibitors beyond inhibition. This systematic review concluded that hyperuricemia independently causes inflammation, oxidative stress, endothelial damage, and endoplasmic reticulum stress in patients with hyperuricemia. These mechanisms provide a cellular basis for metabolic syndrome and related comorbidities. In this context, XO inhibitors and their beneficial effects go beyond XOR inhibition to ameliorate these pathological mechanisms.

In Vitro Hypoxia/Reoxygenation Induces Mitochondrial Cardiolipin Remodeling in Human Kidney Cells.

Renal ischemia/reperfusion is a serious condition that not only causes acute kidney injury, a severe clinical syndrome with high mortality, but is also an inevitable part of kidney transplantation or other kidney surgeries. Alterations of oxygen levels during ischemia/reperfusion, namely hypoxia/reoxygenation, disrupt mitochondrial metabolism and induce structural changes that lead to cell death. A signature mitochondrial phospholipid, cardiolipin, with many vital roles in mitochondrial homeostasis, is one of the key players in hypoxia/reoxygenation-induced mitochondrial damage. In this study, we analyze the effect of hypoxia/reoxygenation on human renal proximal tubule epithelial cell (RPTEC) cardiolipins, as well as their metabolism and mitochondrial functions. RPTEC cells were placed in a hypoxic chamber with a 2% oxygen atmosphere for 24 h to induce hypoxia; then, they were replaced back into regular growth conditions for 24 h of reoxygenation. Surprisingly, after 24 h, hypoxia cardiolipin levels substantially increased and remained higher than control levels after 24 h of reoxygenation. This was explained by significantly elevated levels of cardiolipin synthase and lysocardiolipin acyltransferase 1 (LCLAT1) gene expression and protein levels. Meanwhile, hypoxia/reoxygenation decreased ADP-dependent mitochondrial respiration rates and oxidative phosphorylation capacity and increased reactive oxygen species generation. Our findings suggest that hypoxia/reoxygenation induces cardiolipin remodeling in response to reduced mitochondrial oxidative phosphorylation in a way that protects mitochondrial function.

Regulation of renal organic cation transporters.

Transporters for organic cations (OCs) facilitate exchange of positively charged molecules through the plasma membrane. Substrates for these transporters encompass neurotransmitters, metabolic byproducts, drugs, and xenobiotics. Consequently, these transporters actively contribute to the regulation of neurotransmission, cellular penetration and elimination process for metabolic products, drugs, and xenobiotics. Therefore, these transporters have significant physiological, pharmacological, and toxicological implications. In cells of renal proximal tubules, the vectorial secretion pathways for OCs involve expression of organic cation transporters (OCTs) and multidrug and toxin extrusion proteins (MATEs) on basolateral and apical membrane domains, respectively. This review provides an overview of documented regulatory mechanisms governing OCTs and MATEs. Additionally, regulation of these transporters under various pathological conditions is summarized. The expression and functionality of OCTs and MATEs are subject to diverse pre- and post-translational modifications, providing insights into their regulation in various pathological conditions. Typically, in diseases, downregulation of transporter expression is observed, probably as a protective mechanism to prevent additional damage to kidney tissue. This regulation may be attributed to the intricate network of modifications these transporters undergo, shedding light on their dynamic responses in pathological contexts.

Kidney Failure in Pauci-immune Crescentic Glomerulonephritis: Rationale for Immunosuppression to Improve Kidney Outcome.

PURPOSE OF REVIEW: Pauci-immune crescentic glomerulonephritis is the hallmark finding in ANCA-associated vasculitis (AAV) when the kidneys are affected. The rationale for immunosuppression in AAV is based on the underlying autoimmune nature of the disease. Overall remission rates, kidney outcomes, and the burden of disease have greatly improved since the discovery of various immunosuppressive therapies, but relapses remain common, and a significant proportion of patients continue to progress to end-stage kidney disease. Here, we review the role of immunosuppressive therapies for the treatment of pauci-immune crescentic glomerulonephritis. RECENT FINDINGS: Besides the recognized role of B and T cells in the pathogenies of AAV, the focus on the contribution of inflammatory cytokines, neutrophil extracellular traps (NETs), and the complement system allowed the discovery of new therapies. Specifically, the C5a receptor blocker (avacopan) has been approved as a glucocorticoid-sparing agent. Additionally, based on observational data, more clinicians are now using combination therapies during the induction phase. There is also an evolving understanding of the role of plasma exchange in removing ANCA antibodies. Furthermore, the recent development of risk score systems provides physicians with valuable prognostic information that can influence decisions on immunosuppression, although future validation from larger cohorts is needed. The over-activation of various immune pathways plays a significant role in the pathogenesis of pauci-immune crescentic glomerulonephritis in AAV. Immunosuppression is, therefore, an important strategy to halt disease progression and improve overall outcomes. Relapse prevention while minimizing adverse events of immunosuppression is a major long-term goal in AAV management.

Obesity Is Associated with Fatty Liver and Fat Changes in the Kidneys in Humans as Assessed by MRI.

BACKGROUND: Obesity is associated with metabolic syndrome and fat accumulation in various organs such as the liver and the kidneys. Our goal was to assess, using magnetic resonance imaging (MRI) Dual-Echo phase sequencing, the association between liver and kidney fat deposition and their relation to obesity. METHODS: We analyzed MRI scans of individuals who were referred to the Chaim Sheba Medical Center between December 2017 and May 2020 to perform a study for any indication. For each individual, we retrieved from the computerized charts data on sex, and age, weight, height, body mass index (BMI), systolic and diastolic blood pressure (BP), and comorbidities (diabetes mellitus, hypertension, dyslipidemia). RESULTS: We screened MRI studies of 399 subjects with a median age of 51 years, 52.4% of whom were women, and a median BMI 24.6 kg/m2. We diagnosed 18% of the participants with fatty liver and 18.6% with fat accumulation in the kidneys (fatty kidneys). Out of the 67 patients with fatty livers, 23 (34.3%) also had fatty kidneys, whereas among the 315 patients without fatty livers, only 48 patients (15.2%) had fatty kidneys (p < 0.01). In comparison to the patients who did not have a fatty liver or fatty kidneys (n = 267), those who had both (n = 23) were more obese, had higher systolic BP, and were more likely to have diabetes mellitus. In comparison to the patients without a fatty liver, those with fatty livers had an adjusted odds ratio of 2.91 (97.5% CI; 1.61-5.25) to have fatty kidneys. In total, 19.6% of the individuals were obese (BMI ≥ 30), and 26.1% had overweight (25 < BMI < 30). The obese and overweight individuals were older and more likely to have diabetes mellitus and hypertension and had higher rates of fatty livers and fatty kidneys. Fat deposition in both the liver and the kidneys was observed in 15.9% of the obese patients, in 8.3% of the overweight patients, and in none of those with normal weight. Obesity was the only risk factor for fatty kidneys and fatty livers, with an adjusted OR of 6.3 (97.5% CI 2.1-18.6). CONCLUSIONS: Obesity is a major risk factor for developing a fatty liver and fatty kidneys. Individuals with a fatty liver are more likely to have fatty kidneys. MRI is an accurate modality for diagnosing fatty kidneys. Reviewing MRI scans of any indication should include assessment of fat fractions in the kidneys in addition to that of the liver.

Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys.

Congenital disorders of glycosylation (CDG) are a group of rare autosomal recessive genetic disorders caused by pathogenic variants in genes coding for N-glycosylated glycoproteins, which play a role in folding, degrading, and transport of glycoproteins in their pathway. ALG12-CDG specifically is caused by biallelic pathogenic variants in ALG12. Currently reported features of ALG12-CDG include: developmental delay, hypotonia, failure to thrive and/or short stature, brain anomalies, recurrent infections, hypogammaglobulinemia, coagulation abnormalities, and genitourinary abnormalities. In addition, skeletal abnormalities resembling a skeletal dysplasia including shortened long bones and talipes equinovarus have been seen in more severe neonatal presentation of this disorder. We report on a case expanding the phenotype of ALG12-CDG to include bilateral, multicystic kidneys in a neonatal demise identified with homozygous pathogenic variants in the ALG12 gene at c.1001del (p.N334Tfs*15) through clinical trio exome sequencing.

Propensity score matched analysis of treatment outcomes in pediatric ureteropelvic junction obstruction: a comparison between horseshoe and non-horseshoe kidneys.

BACKGROUND: Pediatric hydronephrosis poses distinct challenges, particularly in cases involving horseshoe kidneys (HSK). This retrospective study compares treatment outcomes between HSK and non-horseshoe kidneys (NHSK) in pediatric ureteropelvic junction obstruction (UPJO) patients. METHODS: A retrospective cohort study included 35 patients with HSK and 790 patients with NHSK undergoing pyeloplasty. Preoperative, intraoperative, and postoperative parameters were evaluated. Propensity score matching (PSM) balanced patient characteristics in the NHSK group. RESULTS: In comparison with NHSK, HSK exhibited a higher crossing vessel incidence (51.6% vs. 5.12%, P < 0.001) and smaller preoperative anteroposterior pelvic diameter (APD). Post 6 and 12 months, NHSK maintained a larger APD, with a higher P/C ratio at 12 months. PSM retained significantly higher crossing vessel incidence in HSK (51.6 vs. 3.61%, P < 0.001). Laparoscopic pyeloplasty (LP) in HSK showed lower postoperative length of stay (LOS). Postoperative ultrasound parameters favored NHSK. In HSK and NHSK with crossing vessels, HSK demonstrated higher complications even post-PSM (38.5% vs. 0%, P = 0.039). CONCLUSIONS: The study emphasizes the importance of recognizing crossing vessels in HSK-related hydronephrosis. Surgical success, although comparable between HSK and NHSK, requires tailored approaches. This investigation contributes valuable insights to pediatric urology, emphasizing personalized management for optimal outcomes.