UNASSIGNED: The association between primary brain tumors, such as glioneuronal tumors, with autosomal-dominant polycystic kidney disease (ADPKD) remains poorly understood, with only two cases reported excluding this one. This case of an ADPKD patient diagnosed with a rosette-forming glioneuronal tumor highlights an exceptionally rare potential association warranting further investigation.
UNASSIGNED: A 28-year-old male with ADPKD presented with progressive ataxia, dizziness, and headache. MRI revealed a cerebellar mass and obstructive hydrocephalus. Surgical resection and histopathological examination confirmed the diagnosis of a rosette-forming glioneuronal tumor. Postoperatively, the patient showed significant symptom improvement.
UNASSIGNED: The interplay between genetics and glioneuronal development is complex and underexplored. While most glioneuronal arise sporadically, rare genetic syndromes may predispose individuals to these tumors. Additionally, although more than 70 cases of ADPKD with concurrent tumors were reported, the literature on this specific association remains limited.
UNASSIGNED: This case underscores the need for heightened awareness of potential associations between ADPKD and tumors such as glioneuronal tumors. With limited literature on this subject, further research is imperative to understand the underlying mechanisms and clinical implications. Enhancing our knowledge in this area can improve patient outcomes and management strategies.

BACKGROUND: Polycystic kidney disease (PKD) is the most common genetic cause of kidney disease. It is a progressive and irreversible condition that can lead to end-stage renal disease and many other visceral complications. Current comprehensive data on PKD patterns in Africa is lacking.
OBJECTIVE: To describe the prevalence and outcomes of PKD in the African population.
METHODS: A literature search of PubMed, African journal online, and Google Scholar databases between 2000 and 2023 was performed. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses were followed to design the study. Clinical presentations and outcomes of patients were extracted from the included studies.
RESULTS: Out of 106 articles, we included 13 studies from 7 African countries. Ten of them were retrospective descriptive studies concerning 943 PKD patients with a mean age of 47.9 years. The accurate prevalence and incidence of PKD were not known but it represented the third causal nephropathy among dialysis patients. In majority of patients, the diagnosis of the disease was often delayed. Kidney function impairment, abdominal mass, and hypertension were the leading symptoms at presentation with a pooled prevalence of 72.1% (69.1-75.1), 65.8% (62.2-69.4), and 57.4% (54.2-60.6) respectively. Hematuria and infections were the most frequent complications. Genotyping was performed in few studies that revealed a high proportion of new mutations mainly in the PKD1 gene.
CONCLUSIONS: The prevalence of PKD in African populations is not clearly defined. Clinical symptoms were almost present with most patients who had kidney function impairment and abdominal mass at the diagnostic. Larger studies including genetic testing are needed to determine the burden of PKD in African populations.

UNASSIGNED: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease causing chronic renal failure, with a high incidence of extra-renal manifestations including pericardial effusion.
UNASSIGNED: We present the case of a 41-year-old female, known for ADPKD, who presented to our emergency department with epigastric pain radiating to the interscapular area. Blood exams showed moderate increase in inflammatory markers. Echocardiography revealed a circumferential pericardial effusion of 10 mm. She was put under treatment with colchicine therapy (1 mg b.i.d.) based on a presumptive diagnosis of acute pericarditis with pericardial effusion. She was hospitalized due to increase in pericardial effusion, underwent pericardial drainage, and started prednisone therapy with rapid recovery. We started a close follow-up on a monthly basis, with progressive decrease in pericardial effusion and progressive amelioration in symptoms, although the patient continued to report mild asthenia.
UNASSIGNED: Pericardial effusion and ADPKD are conditions that both require an interdisciplinary discussion for optimal patient care that avoids neglecting pivotal symptoms and avoidable invasive examinations.

Polycystic kidney disease (PKD) is one of the most common hereditary kidney diseases, which is characterized by progressive cyst growth and secondary hypertension. In addition to cystogenesis and renal abnormalities, patients with PKD can develop vascular abnormalities and cardiovascular complications. Progressive cyst growth substantially alters renal structure and culminates into end-stage renal disease. There remains no cure beyond renal transplantation, and treatment options remain largely limited to chronic renal replacement therapy. In addition to end-stage renal disease, patients with PKD also present with hypertension and cardiovascular disease, yet the timing and interactions between the cardiovascular and renal effects of PKD progression are understudied. Here, we review the vascular dysfunction found in clinical and preclinical models of PKD, including the clinical manifestations and relationship to hypertension, stroke, and related cardiovascular diseases. Finally, our discussion also highlights the critical questions and emerging areas in vascular research in PKD.

Autosomal polycystic kidney disease is the most common inherited kidney disease determining 5% of all end-stage kidney disease. The only therapy approved for this condition is Tolvaptan, which, with its aquaretic effect, has a strong effect on patients\' daily life. Recently, the literature has been enriched with new works that analyze possible non-pharmacological therapeutic strategies to slow cysts\' enlargement and chronic kidney disease progression. Among them, dietary schemes reducing carbohydrate intake and inducing ketoses have been demonstrated to have efficacy in several pre-clinical and clinical studies. A ketogenic diet, calorie restriction, intermittent fasting, and time-restricted feeding can reduce aerobic glycolysis and inhibit the mTOR pathway, producing a reduction in cyst cell proliferation, a reduction in kidney volume, and helping to preserve kidney function. ADPKD\'s burden of disease has an impact on patients\' quality of life, and the possibility to play sports or carry out physical exercise can help people in everyday life. The multisystemic character of the disease, especially cardiovascular involvement, needs to be carefully evaluated to establish the quality and quantity of physical activity that patients can safely carry out.

UNASSIGNED: Autosomal dominant polycystic kidney disease (ADPKD) is a progressive genetic kidney disease. Studies of ADPKD presented results using different outcome measures. We aimed to summarize outcomes reported in ADPKD studies, including composite outcomes.
UNASSIGNED: We conducted a systematic review of published studies that included patients with ADPKD and measured kidney-related outcomes. We searched published databases and included all studies regardless of design with at least 100 participants for observational studies. We excluded studies that were limited to dialysis, transplant, or pregnancy outcomes in patients with ADPKD.
UNASSIGNED: This review includes data from 175 published articles (49 randomized controlled trials, 2 interventional clinical trials, 30 post hoc analyses, and 94 observational studies). We identified 214 different outcomes, and we categorized them into the 24 main outcome domains. In addition, the review identified 13 articles that reported 9 different composite outcomes.
UNASSIGNED: The finding highlights the inconsistency in the outcomes reported by researchers and how they are measured in ADPKD studies. The variability in the outcomes reported supports the need to standardize outcomes in ADPKD studies.

Glycans are one of the four fundamental macromolecular components of living matter, and they are highly regulated in the cell. Their functions are metabolic, structural and modulatory. In particular, ER resident N-glycans participate with the Glc3Man9GlcNAc2 highly conserved sequence, in protein folding process, where the physiological balance between glycosylation/deglycosylation on the innermost glucose residue takes place, according GANAB/UGGT concentration ratio. However, under abnormal conditions, the cell adapts to the glucose availability by adopting an aerobic or anaerobic regimen of glycolysis, or to external stimuli through internal or external recognition patterns, so it responds to pathogenic noxa with unfolded protein response (UPR). UPR can affect Multiple Sclerosis (MS) and several neurological and metabolic diseases via the BiP stress sensor, resulting in ATF6, PERK and IRE1 activation. Furthermore, the abnormal GANAB expression has been observed in MS, systemic lupus erythematous, male germinal epithelium and predisposed highly replicating cells of the kidney tubules and bile ducts. The latter is the case of Polycystic Liver Disease (PCLD) and Polycystic Kidney Disease (PCKD), where genetically induced GANAB loss affects polycystin-1 (PC1) and polycystin-2 (PC2), resulting in altered protein quality control and cyst formation phenomenon. Our topics resume the role of glycans in cell physiology, highlighting the N-glycans one, as a substrate of GANAB, which is an emerging key molecule in MS and other human pathologies.

miRNAs are small endogenous conserved non-coding RNA molecules that regulate post-transcriptional gene expression through mRNA degradation or translational inhibition, modulating nearly 60% of human genes. Cystic diseases are characterized by the presence of abnormal fluid-filled sacs in the body, and though most cysts are benign, they can grow inside tumors and turn malignant. Recent evidence has revealed that the aberrant expression of a number of miRNAs present in extracellular fluids, including plasma or serum, urine, saliva, follicular fluid, and semen, contribute to different cystic pathologies. This review aims to describe the role of different miRNAs in three worldwide relevant cystic diseases: polycystic ovarian syndrome (PCOS), polycystic kidney disease (PKD), and pancreatic cyst tumors (PCTs), as well as their potential use as novel biomarkers.

BACKGROUND: It is uncertain how often patients with autosomal dominant polycystic kidney disease (ADPKD) develop kidney stones.
OBJECTIVE: To review English-language studies reporting the incidence and prevalence of stones and stone interventions in adults with ADPKD.
METHODS: Systematic review and meta-analysis.
METHODS: Any country of origin.
METHODS: Adult patients with ADPKD.
METHODS: Incidence or prevalence of kidney stones and stone interventions.
METHODS: We reviewed 1812 citations from bibliographic databases, abstracted data from 49 eligible studies, and assessed methodological quality in duplicate. In some studies, the proportion of adults with ADPKD with the outcome were compared to adults without ADPKD; for these studies, prevalence risk ratios were calculated and pooled using a random effects model.
RESULTS: We identified 49 articles that met our review criteria. The methodological quality of many studies was limited (scores ranging from 2 to 14 out of 22, with a higher score indicating higher quality). No study clearly reported stone incidence, and in the cross-sectional studies, the definition of stones was often unclear. The prevalence of stones ranged from 3% to 59%, and a prevalence of stone interventions ranged from 1% to 8%; the average patient age at the time of assessment ranged from 26 to 61 years across the studies. Two studies reported a nonstatistically significant higher stone prevalence in patients with ADPKD compared to unaffected family members. Compared to unaffected family members, patients with ADPKD had a higher prevalence of kidney stones (6 cross-sectional studies; unadjusted prevalence ratio: 1.8; 95% confidence interval: 1.3 to 2.6; P = .0007; test for heterogeneity: I 2 = 0%, P = .8).
CONCLUSIONS: Studies were limited to articles published in English.
CONCLUSIONS: The prevalence of kidney stones and stone interventions in adults with ADPKD remains uncertain. Future studies of higher methodological quality are needed to better characterize the incidence and prevalence of kidney stones in patients with ADPKD.
BACKGROUND: We did not register the protocol for this systematic review.
BACKGROUND: La prévalence du développement de calculs rénaux chez les patients atteints de polykystose rénale autosomique dominante (ADPKD) est mal connue.
OBJECTIVE: Examiner les études publiées en anglais portant sur l’incidence et la prévalence des calculs rénaux et des interventions liées à ces derniers chez les adultes atteints d’ADPKD.
UNASSIGNED: Revue systématique et méta-analyze.
UNASSIGNED: Tous les pays d’origine.
UNASSIGNED: Des adultes atteints d’ADPKD.
UNASSIGNED: L’incidence ou la prévalence des calculs rénaux et des interventions sur ceux-ci.
UNASSIGNED: Nous avons examiné 1 812 citations issues des bases de données bibliographiques, extrait les données des 49 études admissibles et analysé leur qualité méthodologique en duplicata. Dans certaines études, la proportion d’adultes atteints d’ADPKD présentant le résultat d’intérêt avait été comparée à celle de sujets non atteints d’ADPKD; dans ces études, les rapports de risque de la prévalence ont été calculés et regroupés à l’aide d’un modèle à effets aléatoires.
UNASSIGNED: Nous avons repéré 49 articles satisfaisant nos critères, dont plusieurs étaient de qualité méthodologique limitée (scores entre 2 et 14 sur une possibilité de 22, une note élevée indiquant une meilleure qualité). Aucune étude ne faisait clairement état d’une incidence de calculs rénaux. De plus, la définition des calculs rénaux n’était souvent pas très claire dans les études transversales. La prévalence des calculs rénaux variait entre 3 % et 59 % et celle des interventions liées variait de 1 % à 8 %. L’âge moyen des patients au moment de l’évaluation allait de 26 à 61 ans selon les études. Deux études faisaient état d’une prévalence plus élevée, quoique non statistiquement significative, chez les patients atteints d’ADPKD par rapport aux membres de leurs familles non atteints. De même, six études transversales rapportaient une prévalence plus élevée de calculs rénaux chez les patients atteints d’ADPKD comparé aux membres de leurs familles non atteints (rapport de prévalence non corrigé: 1,8; IC 95 %: 1,3 à 2,6; p=0,0007; test d’hétérogénéité: I2=0 %; p=0,8).
UNASSIGNED: L’étude ne porte que sur des articles publiés en anglais.
CONCLUSIONS: La prévalence des calculs rénaux et des interventions relatives à ces derniers demeure mal connue chez les adultes atteints d’ADPKD. Des études supplémentaires et de meilleure qualité méthodologique sont nécessaires afin de mieux caractériser l’incidence et la prévalence des calculs rénaux dans cette population.
UNASSIGNED: Le protocole de cette revue systématique n’a pas été enregistré.

Polycystic kidney disease (PKD) occurs in one per 20,000 births. Presence of cysts in other organs like adrenal, liver and bladder is even rarer. On reviewing the literature, there is evidence of PKD occurring in conjunction with polycystic liver disease but cysts in multiple viscera are, so far, not reported. A fetal autopsy of a 36-week fetus showed the presence of multiple cysts in the kidney, liver, adrenal and bladder. Further histopathology reports confirmed the diagnosis of polycystic kidney disease. The history of a previous intrauterine death, of another child at 28-week gestation, suggests the presence of familial type. Serial prenatal ultrasonogram did not detect the abnormalities, emphasizing the important role of fetal autopsy in a case with an incomplete obstetric history. The diagnosis of a fetal abnormality aids to counselling the parents to be aware of possible recurrences in new pregnancies.