Renal cystic diseases are common conditions whose etiology can be highly heterogeneous. They require a correct approach for adequate diagnosis and management. We aimed to illustrate part of the spectrum of renal cystic diseases through some clinical cases managed in our service. We describe 11 clinical cases including clinical entities such as renal multicystic dysplasia, and autosomal dominant and autosomal recessive polycystic renal disease, among other pathologies. Renal cystic diseases are heterogeneous in their clinical presentation, natural history, radiological findings, and genetic and pathophysiological basis. An integral clinical approach is needed to get a clear etiological diagnosis and offer adequate individualized care and follow-up for patients.
Las enfermedades quísticas renales son condiciones frecuentes cuya etiología puede ser muy heterogénea, por lo que se requiere un adecuado abordaje para su diagnóstico y manejo. El objetivo de este trabajo fue ilustrar parte del espectro de la enfermedad renal quística por medio de casos clínicos manejados en la Fundación Valle del Lili. Se describen 11 casos clínicos que incluyen enfermedades como displasia multiquística renal, enfermedad poliquística renal autosómica dominante y autosómica recesiva, entre otras. Las enfermedades quísticas renales varían en su presentación clínica, historia natural, hallazgos imagenológicos, bases genéticas y fisiopatológicas, por consiguiente, el enfoque diagnóstico y el manejo integral se debe realizar de forma individualizada y con un abordaje multidisciplinario.

Humans are predisposed to gout because they lack uricase that converts uric acid to allantoin. Rodents have uricase, resulting in low basal serum uric acid. A uricase inhibitor raises serum uric acid in rodents. There were two aims of the study in polycystic kidney disease (PKD): 1) to determine whether increasing serum uric acid with the uricase inhibitor, oxonic acid, resulted in faster cyst growth and 2) to determine whether treatment with the xanthine oxidase inhibitor, oxypurinol, reduced the cyst growth caused by oxonic acid. Orthologous models of human PKD were used: PCK rats, a polycystic kidney and hepatic disease 1 (Pkhd1) gene model of autosomal recessive PKD (ARPKD) and Pkd1RC/RC mice, a hypomorphic Pkd1 gene model. In PCK rats and Pkd1RC/RC mice, oxonic acid resulted in a significant increase in serum uric acid, kidney weight, and cyst index. Mechanisms of increased cyst growth that were investigated were proinflammatory cytokines, the inflammasome, and crystal deposition in the kidney. Oxonic acid resulted in an increase in proinflammatory cytokines in the serum and kidney in Pkd1RC/RC mice. Oxonic acid did not cause activation of the inflammasome or uric acid crystal deposition in the kidney. In Pkd1RC/RC male and female mice analyzed together, oxypurinol decreased the oxonic acid-induced increase in cyst index. In summary, increasing serum uric acid by inhibiting uricase with oxonic acid results in an increase in kidney weight and cyst index in PCK rats and Pkd1RC/RC mice. The effect is independent of inflammasome activation or crystal deposition in the kidney.NEW & NOTEWORTHY This is the first reported study of uric acid measurements and xanthine oxidase inhibition in polycystic kidney disease (PKD) rodents. Raising serum uric acid with a uricase inhibitor resulted in increased kidney weight and cyst index in Pkd1RC/RC mice and PCK rats, elevated levels of proinflammatory cytokines in the serum and kidney in Pkd1RC/RC mice, and no uric acid crystal deposition or activation of the caspase-1 inflammasome in the kidney.

This review navigates the intricate relationship between gender, hormonal influences, and the progression of autosomal dominant polycystic kidney disease (ADPKD), highlighting the limited literature on this crucial topic. The study explores the impact of female sex hormones on liver and renal manifestations, uncovering gender-specific differences in disease progression. Actually, hormonal therapy in women with ADPKD remains a challenging issue and is a source of concern regarding its potential impact on disease outcomes, particularly at the hepatic level. Notably, women with ADPKD exhibit a slower renal disease progression compared to men, attributed to hormonal dynamics. This review sheds light on the role of estrogen in regulating pathways of the renin-angiotensin-aldosterone system, revealing its complex interplay and implications for cardiovascular and renal health. Therapeutic considerations for fertile women with ADPKD, including contraception options, are discussed, emphasizing the necessity for personalized approaches. In the postmenopausal phase, the review evaluates the role of hormonal replacement therapy, considering its potential benefits and risks in the context of ADPKD. The review concludes by underscoring the imperative need for tailored treatment approaches for ADPKD patients, considering individual risks and benefits. The scarcity of literature underlines the call for further research to enhance our understanding of optimal hormonal therapies in the context of ADPKD, ultimately paving the way for innovative and personalized therapeutic interventions.

BACKGROUND: Factors related to the development and severity of polycystic liver disease (PLD) have not been well established. We aimed to evaluate the genetic and epidemiologic risk factors of PLD in patients with autosomal dominant polycystic kidney disease (ADPKD).
METHODS: Adult patients with inherited cystic kidney disease were enrolled from May 2019 to May 2021. Demographic, clinical, and laboratory data were collected at the initial study visit. The severity of PLD was graded based on the height-adjusted total liver volume: < 1,000 mL/m (Gr1), 1,000-1,800 mL/m (Gr2), and > 1,800 mL/m (Gr3). Targeted exome sequencing was done by a gene panel including 89 ciliopathy-related genes. We searched out the relative factors to the presence and the severity of PLD using logistic regression analysis.
RESULTS: Of 602 patients with typical ADPKD, 461 (76.6%) patients had PLD. The patients with PLD showed female predominance and a higher frequency of other ADPKD-related complications. The genetic variants with truncating mutation of PKD1 (PKD1-protein-truncating [PT]) or PKD2 commonly affected the development and severity of PLD. An older age, female sex, and higher kidney volume with Mayo classification 1C-1E was significantly associated with the development of PLD, but not with the severity of PLD. On the other hand, higher body mass index, lower hemoglobin, and higher alkaline phosphatase (ALP) were the significant risk factors of severe PLD (≥ Gr2).
CONCLUSIONS: Hepatic involvement in ADPKD could be related to kidney manifestations and genetic variants including PKD1-PT or PKD2. Monitoring hemoglobin and ALP and evaluating the genetic variants might help predict severe PLD.
BACKGROUND: Clinical Research Information Service Identifier: KCT0005580.

Autosomal dominant polycystic kidney disease (ADPKD) with concomitant horseshoe kidney is an extremely rare entity. In this case, we report a 45-year-old male patient with ADPKD and a horseshoe kidney who demonstrated hypertension, urological complications, and discomfort symptoms such as pain, breathing difficulties, and abdominal meteorism. After preoperative assessment and planning, the patient underwent nephrectomy. Bilateral nephrectomy without dividing the isthmus was performed successfully. The isthmus, which had complicated vasculature and was full of cysts, remained intact, avoiding severe bleeding and infection. The postoperative course was uneventful. Keeping the isthmus intact in such cases is a challenge for the surgeon. The rarity of polycystic horseshoe kidney in combination with the altered abdominal anatomy requires the proper preoperative strategy in order to avoid intraoperative complications.
Autosominiu dominantiniu būdu paveldima inkstų policistozė (angliškai trumpinama ADPKD) kartu su pasagos inkstu yra itin retas reiškinys. Čia pateikiamu atveju pacientui, 45 metų vyrui, kuriam yra autosominiu dominantiniu būdu paveldima inkstų policistozė bei pasagos inkstas, buvo padidėjęs kraujospūdis, urologinės komplikacijos bei nemalonios savijautos simptomai – skausmas, kvėpavimo sunkumas ir abdominalinis meteorizmas. Įvertinus paciento būklę iki operacijos ir suplanavus operaciją, jam buvo atlikta nefrektomija. Sėkmingai atlikta abipusė nefrektomija nepadalijant sąsmaukos tarp inkstų. Sąsmauka, kurioje buvo sudėtinga kraujagyslių sistema ir daug cistų, operuojant nebuvo paliesta, taip išvengta stipraus kraujavimo ir infekcijos. Tokiu atveju nepaliesti sąsmaukos yra iššūkis chirurgui. Pooperacinis laikotarpis praėjo be problemų. Situacijos, kai yra policistinis pasagos inkstas ir netipinė pilvo anatomija, retos, todėl reikia tinkamos priešoperacinės strategijos, kad būtų išvengta komplikacijų operacijos metu.

Although rapamycin is a very effective drug for rodents with polycystic kidney disease (PKD), it is not encouraging in the clinical trials due to the suboptimal dosages compelled by the off-target side effects. We here report the generation, characterization, specificity, functionality, pharmacokinetic, pharmacodynamic and toxicology profiles of novel polycystic kidney-specific-targeting nanoparticles (NPs). We formulated folate-conjugated PLGA-PEG NPs, which can be loaded with multiple drugs, including rapamycin (an mTOR inhibitor) and antioxidant 4-hydroxy-TEMPO (a nephroprotective agent). The NPs increased the efficacy, potency and tolerability of rapamycin resulting in an increased survival rate and improved kidney function by decreasing side effects and reducing biodistribution to other organs in PKD mice. The daily administration of rapamycin-alone (1 mg/kg/day) could now be achieved with a weekly injection of NPs containing rapamycin (379 μg/kg/week). This polycystic kidney-targeting nanotechnology, for the first time, integrated advances in the use of 1) nanoparticles as a delivery cargo, 2) folate for targeting, 3) near-infrared Cy5-fluorophore for in vitro and in vivo live imaging, 4) rapamycin as a pharmacological therapy, and 5) TEMPO as a combinational therapy. The slow sustained-release of rapamycin by polycystic kidney-targeting NPs demonstrates a new era of nanomedicine in treatment for chronic kidney diseases at clinically relevant doses.

UNASSIGNED: Polycystic kidney disease is a cillopathy characterized by the formation of numerous cysts in the kidneys, sometimes associated with extra-renal forms. Diagnosis is often by chance, or by other complications such as hematuria, urinary tract infections or, rarely, compression of neighboring organs.
METHODS: We report the case of a patient consulted for a symptomatology similar to that of acute pancreatitis, whose investigation objectified compression of the main bile duct by a voluminous right kidney polycystic in a CT scan.
UNASSIGNED: For this compressive complication of the polycystic kidney, a nephrectomy was performed after embolization of the renal artery, given the haemorrhage risk.
CONCLUSIONS: A polycystic kidney should be removed in the event of a compressive complication and, given the risk of haemorrhage, should preferably be preceded by embolization.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. It has been associated with a significant physical and psychological burden, leading to a reduced quality of life. The purpose of this literature review is to summarize the patient perspective on ADPKD based on the current published literature. A systematic literature review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Publications reporting a patient or caregiver/relative perspective of ADPKD were included. Sources searched included Medline (PubMed), Embase (Ovid), Cochrane Library, and Web of Science from inception to April 2022. This was followed by a subsequent reference and citation search. A total of 1011 articles were identified by the search process, with 28 studies included in the review. An inductive thematic analysis identified six key themes: diagnosis, monitoring, and screening; symptoms; lifestyle and dietary interventions; psychological, physical, and social impact; future planning; and interaction with the health care system. The findings of this review highlight the burden and uncertainty associated with ADPKD from a patient\'s perspective. This impacts patients and their caregivers/relatives at each stage of the patient\'s journey from screening to initiation of renal replacement therapy and future planning.

BACKGROUND: Xanthogranulomatous pyelonephritis (XGP) is a rare chronic pyelonephritis that often mimics other renal diseases, when combined with autosomal dominant polycystic kidney disease(ADPKD), preoperative diagnosis is exceedingly difficult. It is important for clinicians to be aware of an XGP with ADPKD since a misdiagnosis can lead to unnecessary surgical intervention.
METHODS: Here, we report a case of a 66-year-old female with a history of bilateral ADPKD and urinary tract infection admitted to our hospital due to right flank pain, feeble, and low-grade fever. Contrast-enhanced ultrasound revealed a malignant mass of the right kidney suspected to be a cystic renal cell carcinoma with polycystic kidney disease. In addition, contrast-enhanced computed tomography (CT) and fluorine 18 fluorodeoxyglucose PET/CT (18F FDG PET/CT) showed similar results. Subsequently, the patient underwent a right radical nephrectomy, but histopathological examination revealed XGP with ADPKD. On the follow-up, the patient\'s symptoms were relieved.
CONCLUSIONS: XGP should be kept in mind during the differential diagnosis of renal masses with ADPKD even in the absence of characteristic clinical symptoms and imaging manifestations.

BACKGROUND: Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are renal ciliopathies. BBS has 22 pathogenic genes, and ADPKD is mainly caused by PKD1 and PKD2 variants. Cases with tri-allelic variants of BBS and PKD1 are rare.
METHODS: The proband was an 11-year-old Chinese male with cysts in both kidneys, blurred vision, hyperopia, and short fingers and toes. The patient underwent a kidney transplant due to rapid deterioration of renal failure. During follow-up, a smaller field of vision, a slow increase in height, and a weight gain were observed. In addition, renal function and anemia were improved. High-throughput sequencing analysis showed two heterozygous variants in BBS2 (c.563delT (p.I188Tfs*13) inherited from the father and c.534+1G > t (splicing) from the mother) and one heterozygous variant in PKD1 (c.6223C > T (p.R2075C)) inherited from the mother.
CONCLUSIONS: This paper reported a ciliopathy patient with multi-allelic variants (two BBS2 variants and one PKD1 variant) that may lead to early symptoms and more rapid progression. An early genetic diagnosis may contribute to predicting disease progression and guiding management and follow-up.