Insuficiencia hepática secundaria a enfermedad poliquística renal-hepática

La enfermedad poliquística renal autosómica dominante es considerada la enfermedad renal genética más frecuente y es la cuarta causa de enfermedad renal crónica a nivel mundial. Afecta a cerca de 1 por cada 1000 nacidos vivos. La enfermedad poliquística hepática es la manifestación extrarrenal más frecuente de la enfermedad poliquística renal. La cirrosis hepática constituye un hallazgo tardío en esta enfermedad y su presentación es más común en el anciano, y la descompensación de la enfermedad con insuficiencia hepática como causa de muerte. Presentamos el caso de un paciente masculino de 60 años con antecedentes patológicos personales de la enfermedad poliquística renal con ascitis a tensión, y edemas en ambos miembros inferiores con datos de insuficiencia hepática y evolución desfavorable hasta su fallecimiento. Aunque la presencia de la falla hepática se asocia a un pronóstico precario, la detección precoz puede suponer el inicio de un tratamiento oportuno y apropiado que puede ser beneficioso.

Autosomal dominant polycystic kidney disease is considered the most common genetic kidney disease and the fourth leading cause of chronic kidney disease worldwide. It affects about 1 in 1,000 live births. Polycystic liver disease is the most common extrarenal manifestation of polycystic kidney disease. Liver cirrhosis is a late finding in this disease and its presentation is more common in the elderly. Decompensation of the disease, with liver failure as the cause of death, is rare in polycystic liver disease. We report the case of a 60-year-old male patient with a personal pathological history of polycystic kidney disease with tense ascites and edema in both lower limbs, with evidence of liver failure and unfavorable evolution until his death. Although the presence of liver failure is associated with poor prognosis, its early detection may mean the initiation of timely and appropriate treatment that may be beneficial.

Endovascular treatment of intrarenal aneurysms bleeding and angiomyolipomas in a patient with tuberous sclerosis and polycystic kidney disease / Tratamento endovascular de sangramentos e angiomiolipomas de aneurismas intrarrenais em um paciente com esclerose tuberosa e doença renal policística

Abstract Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are conditions related to renal failure that can rarely occur in association as a contiguous gene syndrome. Angiomyolipomas (AMLs) are renal tumors strongly related to TSC that may rupture and cause life-threatening bleedings. We present a patient with TSC, ADPKD, and renal AMLs with persistent hematuria requiring blood transfusion. The persistent hematuria was successfully treated through endovascular embolization, a minimally invasive nephron sparing technique.

Resumo O complexo de esclerose tuberosa (CET) e a doença renal policística autossômica dominante (DRPAD) são condições relacionadas à insuficiência renal que raramente podem ocorrer em associação como uma síndrome do gene contíguo. Angiomiolipomas (AMLs) são tumores renais fortemente relacionados ao CET que podem romper-se e causar hemorragias com risco de vida. Apresentamos um paciente com CET, DRPAD e AMLs renais com hematúria persistente que requer transfusão sanguínea. A hematúria persistente foi tratada com sucesso por meio de embolização endovascular, uma técnica de preservação do néfron minimamente invasiva.

Clinical technical operation specification of kidney transplantation for autosomal dominant polycystic kidney disease (2022 edition) / 器官移植

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and one of the most common causes for end-stage renal disease (ESRD). Kidney transplantation is the optimal renal replacement therapy for ADPKD patients complicated with ESRD. Currently, scholars at home and abroad have a certain controversy about whether polycystic kidney resection is necessary in ADPKD patients before kidney transplantation, and the criteria and methods for polycystic nephrectomy also differ. To further standardize the clinical technical operation of kidney transplantation in ADPKD patients, experts in organ transplantation organized by Branch of Organ Transplantation of Chinese Medical Association formulated this specification from the aspects of diagnosis of ADPKD, indications and contraindications of kidney transplantation for ADPKD, preoperative evaluation and treatment, polycystic nephrectomy, and postoperative management, etc.

The genetic spectrum of polycystic kidney disease in children

SUMMARY OBJECTIVE: Autosomal dominant polycystic kidney disease is an inherited kidney disorder with mutations in polycystin-1 or polycystin-2. Autosomal recessive polycystic kidney disease is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. Mutations at PKHD1 are responsible for all typical forms of autosomal recessive polycystic kidney disease. METHODS: We evaluated the children diagnosed with polycystic kidney disease between October 2020 and May 2022. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively. RESULTS: There were 28 children (male/female: 11:17) evaluated in this study. Genetic analysis was performed in all patients (polycystin-1 variants in 13, polycystin-2 variants in 7, and no variants in 8 patients). A total of 18 variants in polycystin-1 and polycystin-2 were identified and 9 (50%) of them were not reported before. A total of eight novel variants were identified as definite pathogenic or likely pathogenic mutations. There was no variant detected in the PKDH1 gene. CONCLUSION: Our results highlighted molecular features of Turkish children with polycystic kidney disease and demonstrated novel variations that can be utilized in clinical diagnosis and prognosis.

Combined liver-kidney transplant in polycystic diseases: a case report

ABSTRACT Polycystic liver disease, a hereditary pathology, usually manifests as autosomal dominant polycystic kidney disease. The many cysts in the liver cause massive hepatomegaly, majorly affecting the patient's quality of life. In cases of refractory symptoms, liver transplantation is the only treatment choice. A 43-year-old woman was followed up as a hepatology outpatient in August 2020, with a progressive increase in abdominal volume, lower limb edema, and cachexia. The patient was diagnosed with polycystic renal and liver disease with massive hepatomegaly in March 2021, a combined kidney-liver transplant. Liver size represented 13% of the patient's corporal composition, weighing 8.6kg. The patient was discharged on the 7th postoperative day with no complications. Only 10-20% of patients with polycystic liver disease have clinical manifestations, most of which result from hepatomegaly. An increase in liver volume deteriorates liver function until the condition becomes end-stage liver disease, as kidney function is already compromised; liver-kidney transplantation remains the only treatment choice. The case described drew significant attention to the massive hepatomegaly presented in the patient, with the liver representing over 10% of the patient's body weight, approximately five to six times larger than a normal-sized liver.

Bardet-Biedl syndrome: a case report / 中华肾脏病杂志

Bardet-Biedl syndrome (BBS) is an autosomal recessive hereditary rare disease with high heterogeneity in clinical phenotypes, which can affect multiple systems, such as six fingers/digits deformity, mental impairment, retinopathy, polycystic kidney, etc, and is easily diagnosed according to a single system disease, resulting in misdiagnosis. The paper reports a case of BBS, diagnosed with "renal cyst, developmental delay, chondrosis, and left foot hexadactylism" at 5 years old, "anemia, renal insufficiency, distal renal tubule poisoning, renal osteodystrophy" at 7 years old. At 10 years old, the patient received hemodialysis treatment for uremia. Cloudy vision appeared in both eyes at 14 years old. Because of the prominent manifestation of kidney damage, the patient was misdiagnosed as "polycystic kidney" for a long time, and other systemic damages were ignored. The result of gene sequencing showed that chromosome 16 NM_031885.5 exon17 had one homozygous nonsense mutation. Therefore, the patient was accurately diagnosed as BBS. This paper is the first report of BBS in Li nationality in China. The relevant literature of BBS were reviewed to strengthen clinicians' understanding of the disease and improve patients' prognosis.

Advances in the regulation of autosomal dominant polycystic kidney disease by Hippo signaling pathway / 中华肾脏病杂志

The Hippo signaling pathway is highly conserved in evolution, and participates in the regulation of cell proliferation, differentiation, and tissular dynamic balance, and plays an important role in regulating tissue, organ size, and cell number. Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and one of the most common causes of end-stage renal disease. Emerging studies have identified the Hippo signaling pathway is closely related to the occurrence and development of ADPKD. The abnormal activity and expression of the main members of the pathway affect the cilia and cell polarity of renal tubular epithelial cells and induce the formation of renal cysts. The review summarizes the potential mechanism of the Hippo pathway in the pathogenesis of ADPKD, the crosstalk with other signaling pathways, and the variances in different species, and discusses the strategies for the treatment of ADPKD based on the Hippo signaling pathway to provide new strategies for the treatment.

Poliquistosis renal autosómica dominante: ¿quiénes se benefician del tratamiento con tolvaptán?. Estado del arte / Autosomal dominant polycystic kidney disease. Who can benefit from tolvaptan therapy? State of the art / Doença renal policística autossômica dominante: quem se beneficia do tratamento com tolvaptano? Estado da arte

Resumen: La poliquistosis renal autosómica dominante es la enfermedad renal hereditaria más frecuente. Se caracteriza por la progresiva aparición de quistes renales que suelen conducir a la enfermedad renal crónica extrema en la edad adulta. La aprobación del uso de tolvaptán (antagonista del receptor V2 de la vasopresina) ha marcado un cambio significativo en el tratamiento de esta enfermedad. En los últimos años apareció evidencia que demuestra el beneficio en iniciar tratamiento con tolvaptán en pacientes que presentan una enfermedad con rápida evolución. Se realiza una revisión descriptiva de los principales estudios clínicos publicados en el periodo 2012-2022 y se sugiere un esquema de utilidad para seleccionar aquellos pacientes que pueden beneficiarse del inicio de tratamiento.

Abstract: Autosomal dominant polycystic kidney disease is the most common hereditary kidney disease. It is characterized by the progressive appearance of renal cysts that usually lead to extreme chronic kidney disease in adulthood. The approval of the use of tolvaptán (V2 vasopressin receptor antagonist) has meant a significant change in the treatment of this disease. In recent years, evidence has proved the benefits of initiating treatment with tolvaptán in patients with a rapidly evolving disease. A descriptive review of the main clinical studies published in 2012-2022 period is carried out and a useful scheme is suggested to select those patients who can benefit from the start of treatment.

Resumo: A doença renal policística autossômica dominante é a doença renal hereditária mais comum. Caracteriza-se pelo aparecimento progressivo de cistos renais que geralmente levam à doença renal crônica extrema na idade adulta. A aprovação do uso do tolvaptano (antagonista do receptor de vasopressina V2) marcou uma mudança significativa no tratamento dessa doença. Nos últimos anos, surgiram evidências que demonstram o benefício de iniciar o tratamento com tolvaptano em pacientes com doença de evolução rápida. Faz-se uma revisão descritiva dos principais estudos clínicos publicados no período 2012-2022 e sugere-se um esquema útil para selecionar aqueles pacientes que podem se beneficiar do início do tratamento.

Nefronoptisis: reporte de un caso pediátrico / Nephronophthisis: a pediatric case report

La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis.We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.

NOS3 gene intron 4 a/b polymorphism is associated with ESRD in autosomal dominant polycystic kidney disease patients / O polimorfismo intron 4 a/b do gene NOS3 está associado à DRET em pacientes com doença renal policística autossômica dominante

Abstract Introduction: Endothelial nitric oxide synthase (eNOS) genes have been implicated in renal hemodynamics as potent regulators of vascular tone and blood pressure. It has been linked to a reduction in plasma nitric oxide levels. Several studies have recently been conducted to investigate the role of NOS3 gene polymorphisms and end-stage renal disease (ESRD). However, the results are still unclear and the mechanisms are not fully defined. As a result, we conducted a meta-analysis to examine the relationship between NOS3 gene polymorphism and ESRD in autosomal polycystic kidney disease (ADPKD) patients. Methods: To assess the relationship between NOS3 gene polymorphism and ESRD, relevant studies published between September 2002 and December 2020 were retrieved from the PubMed (Medline), EMBASE, Google Scholar, and Web of Science databases. The pooled odds ratio (OR) and 95 % confidence interval (CI) were calculated using a fixed-effect model. To assess the heterogeneity of studies, we used Cochrane's Q test and the Higgins and Thompson I2 statistics. Results: Our meta-analysis of 13 studies showed that the presence of the two NOS3 gene polymorphisms significantly increased ESRD risk in ADPKD patients with 4a/b gene polymorphism (aa+ab vs. bb: OR=1.95, 95% CI=1.24-3.09, p=0.004). In addition, no significant association was found between the NOS3 894G>T (Glu298Asp) polymorphism and the risk of ESRD in ADPKD patients (GT+TT vs. GG: OR=1.21, 95% CI=0.93-1.58, p=0.157). There was no evidence of publication bias. Conclusions: The findings of the current meta-analysis suggest that NOS3 intron 4a/b polymorphism plays a vital role in the increasing risk of ESRD in ADPKD patients.

Resumo Introdução: Genes da óxido nítrico sintase endotelial (eNOS) têm sido implicados na hemodinâmica renal como potentes reguladores do tônus vascular e pressão arterial. Tem sido vinculado a uma redução nos níveis plasmáticos de óxido nítrico. Realizou-se recentemente vários estudos para investigar o papel de polimorfismos do gene NOS3 e doença renal em estágio terminal (DRET). Entretanto, os resultados ainda não são claros e os mecanismos não estão totalmente definidos. Como resultado, realizamos meta-análise para examinar a relação entre polimorfismo do gene NOS3 e DRET em pacientes com doença renal policística autossômica dominante (DRPAD). Métodos: Para avaliar a relação entre polimorfismo do gene NOS3 e DRET, recuperou-se estudos relevantes publicados entre Setembro-2002 e Dezembro-2020 dos bancos de dados PubMed (Medline), EMBASE, Google Scholar, Web of Science. Calculamos odds ratio (OR) e intervalo de confiança (IC) de 95% utilizando modelo de efeitos fixos. Para avaliar a heterogeneidade dos estudos, utilizamos teste Q de Cochrane e estatísticas I2 de Higgins e Thompson. Resultados: Nossa meta-análise de 13 estudos mostrou que a presença dos dois polimorfismos do gene NOS3 aumentou significativamente o risco de DRET em pacientes com DRPAD com polimorfismo do gene 4a/b (aa+ab vs. bb: OR=1,95; IC 95%=1,24-3,09; p=0,004). Ademais, não encontramos associação significativa entre polimorfismo 894G>T NOS3 (Glu298Asp) e risco de DRET em pacientes com DRPAD (GT+TT vs. GG: OR=1,21; IC 95%=0,93-1,58; p=0,157). Não houve evidência de viés de publicação. Conclusões: Achados da meta-análise atual sugerem que o polimorfismo intron 4a/b do NOS3 desempenha papel vital no aumento do risco de DRET em pacientes com DRPAD.

Clinical characteristics of 103 patients with autosomal dominant polycystic kidney disease / 中华肾脏病杂志

Objective:To explore the clinical characteristics of autosomal dominant polycystic kidney disease (ADPKD).Methods:Clinical data of 103 patients with ADPKD first admitted to Renmin Hospital of Wuhan University from July 2017 to April 2021 were retrospectively analyzed. The clinical characteristics of patients in different renal function stages were analyzed, and multiple linear regression analysis was used to analyze the factors reflecting the severity of the disease.Results:Among the 103 patients with ADPKD, there were 49 males (47.6%), aged (51.23±10.99) years old. The extrarenal manifestation was mainly polycystic liver (64/71). The main clinical symptoms were gross hematuria (25 cases, 24.3%), lumbar distend and pain (37 cases, 35.9%) and hypertension (69 cases, 67.0%), appearing in the whole course of the disease. Early treatment was mainly drug conservative treatments (58 cases, 56.3%), followed by renal cyst aspiration (34 cases, 33.0%), and surgical treatments (11 cases, 10.7%). Patients in chronic kidney disease (CKD) stage 5 were mainly treated with conservative treatments (28/34). Laboratory examination results showed that hemoglobin, platelet, lymphocyte percentage and albumin in CKD stage 4-5 were lower than those in CKD stage 1-3 (all P<0.05) ; prothrombin time (PT), PT-international standardized ratio and plasma osmotic concentration in CKD stage 4-5 were higher than those in CKD stage 1-3 (all P<0.05). Multiple linear regression analysis showed that hemoglobin ( β=0.249, P=0.005), platelet ( β=0.207, P=0.005), lymphocyte percentage ( β=0.305, P<0.001) and plasma osmotic concentration ( β=-0.362, P<0.001) were correlated with estimated glomerular filtration rate. Conclusions:The clinical manifestations of ADPKD patients are hypertension, lumbar distend and pain, and gross hematuria, which can run through the whole stage of CKD. Polycystic liver is more common in extrarenal system. Hemoglobin, platelets, lymphocyte percentage and concentration osmotic concentration may be related to the disease progression of ADPKD.

Clinical phenotype and gene analysis of TSC2/PKD1 adjacency gene syndrome / 中华神经科杂志

Objective:To explore the clinical phenotype and gene characteristics of a case of TSC2/PKD1 adjacency gene syndrome, so as to improve the clinical understanding of the disease.Methods:A case of TSC2/PKD1 adjacency gene syndrome diagnosed in the Department of Neurology of the Children′s Hospital Affiliated to Zhengzhou University was analyzed retrospectively. The clinical data, laboratory examination, imaging characteristics and gene variation characteristics of the child were summarized.Results:The patient was a 17 months old girl, with the main complaint of "intermittent convulsion with 17 months of underdevelopment". The clinical manifestations were epileptic seizures, which were in the form of a series of spastic seizures, absence seizures, focal seizures, and depigmentation spots can be seen in the trunk and neck. Cranial magnetic resonance imaging showed multiple patchy signals in the cortex and subcortical areas of the bilateral cerebral hemispheres, multiple small nodular shadows under the ependyma of the bilateral lateral ventricles, the heart color Doppler ultrasound showed patent foramen ovale and pericardial effusion, and the abdomen color Doppler ultrasound showed polycystic kidney. Ophthalmic color Doppler ultrasound showed that there were localized small swelling lesions around the optic disc of the left eye. The whole exon gene sequencing of the pedigree showed the proband had partial deletion of TSC2 gene (NM_000548) at chromosome position chr16: 2125799-2185690. The real-time quantitative detection system verified that exons 23-42 were deleted, and all exons of PKD1 gene were deleted (NM_001009944), and multiple ligation dependent probe amplification verified that exons 1-46 were deleted, and no downstream gene deletion was found. The overall deletion size was about 60 kb. Both of the girl's father and mother had normal phenotypes and were wild-type.Conclusions:TSC2/PKD1 adjacency gene syndrome is relatively rare. It can have clinical manifestations of tuberous sclerosis/autosomal dominant polycystic kidney disease. Most of the nervous system and kidney are seriously affected, and the prognosis is poor. TSC2/PKD1 gene deletion and variation is the genetic cause of the TSC2/PKD1 adjacency gene syndrome.

Are Saunas Beneficial or Harmful for Autosomal Dominant Polycystic Kidney Disease? Examination with Model Mouse / 日本温泉気候物理医学会雑誌

  Background: Heat shock proteins (Hsps), expression of which are induced by thermal treatment, function in the protection of kidneys by suppressing apoptosis and maintaining renal tubular viability. Moreover, recently, it has been indicated that the expression of Hsps can be a therapeutic target for autosomal dominant polycystic kidney disease (ADPKD). We investigated the effect of dry sauna therapy on ADPKD model mice.  Methods and Results: The mice (male DBA/2FG-pcy mice) were categorized into three groups: controls, TS: pcy mice subjected to prolonged sauna with administered water containing 4% sucrose, SW: pcy mice administered water containing 4% sucrose. The TS group was subjected to sauna sessions twice a week for four weeks. The TS group attained and were maintained at rectal temperatures of approximately 39.0°C, until they were carefully removed from the far infrared-ray device. After 4 weeks of sauna treatment, creatinine and blood-urea-nitrogen (BUN) levels determined by an enzymatic method. The heat shock protein (HSP) or cell growth and size related proteins were analyzed by western blotting. The TS group exhibited marginally higher creatinine and BUN levels than did the control and SW groups, however, the differences were not significant. However, cyst enlargement in the TS group reduced significantly compared to that of the control group. HSP90 expression was slightly decreased in the TS and SW groups relative to the control group (p < 0.01 or p < 0.001, vs. control), as was Erk expression, which is linked to cyst development and proliferation (p < 0.05, TS vs. control). Hsp27 expression and phosphorylation level in the SW group were comparable with that of the control group. However, the TS group had increased levels of Hsp27 and phosphorylation (NS). The expression of pro-caspase-3 in the TS group was marginally lower than that in the control group. However, the activity of caspase-3 in all groups showed no differences.  Conclusion: The findings of this study indicated that 4 weeks of sauna treatment could cause transient dehydration and related renal dysfunction and led to the risk of stimulating cyst growth by increased Hsp27 expression. Moreover, we concluded that prevention of dehydration and cyst growth could be suppressed by taking an appropriate amount of water directly after sauna treatment.

Feasibility and perioperative safety of retroperitoneal laparoscopic nephrectomy for autosomal dominant polycystic kidney before kindey transplantation / 国际外科学杂志

Objective:To evaluate the feasibility and perioperative safety of retroperitoneal laparoscopic nephrectomy for autosomal dominant polycystic kidney disease (ADPKD) before kidney transplantation.Methods:A total of 22 patients with ADPKD who underwent laparoscopic polycystic nephrectomy before kidney transplantation in Beijing Friendship Hospital, Capital Medical University from January 2013 to December 2020 were enrolled in this retrospective study. Preoperative epidemiological data, operation time, intraoperative blood loss, perioperative blood transfusion, conversion rate, postoperative gastrointestinal function recovery time, drainage tube placement time, postoperative hospital stay, incidence and severity of complications were collected.Results:The mean age of all patients in this study was (50.95±9.28) years old, and the mean preoperative polycystic kidney diameter was (18.83±2.38) cm. In all patients, 20 patients were scheduled for polycystic nephrectomy due to transplantation and 2 patients were done for polycystic renal cyst rupture and hemorrhage. The mean operation time of all patients was (191.14±70.46) min, and the median intraoperative blood loss was 100 mL. Among them, 5 patients had large intraoperative blood loss, and were given intraoperative blood transfusion. Two of all patients were converted to open due to severe intraoperative adhesions. In terms of postoperative recovery, the mean recovery time of gastrointestinal function was (2.09±0.61) d, the mean time of abdominal drainage tube placement was (5.32±2.08) d, the mean postoperative hospital stay was (7.55±2.34) d. In terms of postoperative complications, 4 patients developed postoperative incision pain, bleeding or other complications, but all improved after symptomatic treatment.Conclusions:For patients with ADPKD, original polycystic kidney can be effectively resected by retroperitoneoscopy before transplantation. At the same time, the operation time is short, and patients have quick postoperative recovery, even the incidence and severity of postoperative complications are low. Therefore, retroperitoneal laparoscopic nephrectomy can be used as the first choice for the removal of original polycystic kidney before renal transplantation in ADPKD patients.

Influence of prophylactic resection of orthotopic polycystic kidney disease on perioperative complications and surgical difficulty of renal transplantation in patients with ADPKD / 国际外科学杂志

Objective:To explore whether prophylactic resection of orthotopic polycystic kidney before allogeneic kidney transplantation can reduce the incidence and severity of perioperative complications in patients with end-stage renal disease due to autosomal dominant polycystic kidney disease (ADPKD), and reduce the difficulty of surgery.Methods:A retrospective case-control study method was used to recruit a total of 27 patients who were diagnosed with ADPKD and underwent allogeneic kidney transplantation in Beijing Friendship Hospital, Capital Medical University from January 2013 to January 2021, they were divided into prophylactic resection group ( n=19) and non-prophylactic resection group ( n=8) according to whether orthotopic polycystic kidney disease was prophylactic resection before transplantation. Patients in prophylactic resection group underwent orthotopic polycystic kidney resection before transplantation, while patients in non-prophylactic resection group didn′t. The indexes such as hemoglobin, platelet, albumin, left ventricular wall thickness, left ventricular ejection fraction, difficulty of kidney transplantation, average postoperative hospital stay, pain, and complication rate before kidney transplantation were analyzed and compared between the two groups. Measurement data were expressed as mean ± standard deviation ( ± s), and independent sample t-test was used for comparison between groups; Chi-square test was used for comparison of enumeration data between groups. Results:There was no significant difference in the general status of hemoglobin, platelets, albumin, left ventricular wall thickness, and left ventricular ejection fraction between the two groups before kidney transplantation ( P>0.05). However, the polycystic kidney volume [(2 409.8±1 899.8) cm 3] in the prophylactic resection group was greater than that in the non-prophylactic resection group [(1 340.2±290.6) cm 3], and the difference was statistically significant ( P=0.027). In terms of postoperative complications, 9 patients in the prophylactic resection group and 5 patients in the non-prophylactic resection group developed long-term low back pain or hematuria after transplantation, which were considered to be related to the unresected polycystic kidney disease, but the difference was not statistically significant ( P=0.678). Meanwhile, in both two groups, 3 patients underwent orthotopic polycystic nephrectomy after transplantation due to severe polycystic kidney complications. Although the incidence of complications in the prophylactic resection group (15.8%) was lower than that in the non-prophylactic resection group (37.5%), the difference was not statistically significant ( P=0.319). Conclusion:Prophylactic resection of orthotopic polycystic kidney before kidney transplantation can reduce the incidence and severity of polycystic kidney-related complications after transplantation, but has little effect on the operation time and intraoperative blood loss of kidney transplantation.

Trastornos metabólicos urinarios en pacientes urolitiásicos con enfermedad renal poliquística y sin ella / Urinary metabolic disorders in urolithiasis patients with and without polycystic kidney disease

Introducción: La urolitiasis se ha incrementado en las últimas décadas. La enfermedad renal poliquística autosómica dominante (ERPAD), enfermedad renal hereditaria más frecuente, ocupa un lugar preponderante. Objetivos: Identificar la frecuencia de presentación de los trastornos metabólicos urinarios en pacientes litiásicos cubanos con ERPAD y sin ella Métodos: Estudio descriptivo, transversal. Fueron estudiados 579 pacientes adultos sin ERPAD, seleccionados por muestreo simple aleatorio y los 21 pacientes con ERPAD, del total de pacientes con litiasis urinaria que se realizó estudio metabólico renal en el Laboratorio de Fisiopatología Renal del Instituto de Nefrología, en el periodo 2010-2015. Los datos fueron tomados de la historia clínica y del informe de estudio metabólico renal. La información se procesó de forma automatizada (SPSS 22.0). Se utilizó el promedio, desviación estándar, análisis de distribución de frecuencias y el test de homogeneidad. Resultados: En los pacientes con ERPAD predominó el sexo femenino (57,1 por ciento), mientras que en los pacientes sin ERPAD, el masculino (63,4 por ciento). Los trastornos más frecuentes en la población no poliquística fueron hipercalciuria (45,3 por ciento) e hipofosfatemia (17,1 por ciento). En los poliquísticos, aclaramiento aumentado de ácido úrico (38,1 por ciento) e hipercalciuria (23,8 por ciento). Se encontraron diferencias estadísticamente significativas para aumento del aclaramiento de ácido úrico (p = 0,01) e hiperfosfatemia (p = 0,04). Conclusiones: Los principales trastornos metabólicos de los pacientes litiásicos, tanto poliquísticos como no poliquísticos, son el aclaramiento de ácido úrico aumentado, hipercalciuria, hiperuricosuria e hipofosfatemia, aunque el orden de presentación es diferente. El aclaramiento de ácido úrico aumentado y la hiperfosfatemia se presentan con mayor frecuencia en los pacientes litiásicos poliquísticos(AU)

Introduction: Urolithiasis has increased in recent decades. Autosomal dominant polycystic kidney disease (ADPKD), the most common of all hereditary kidney diseases, occupies a predominant position in terms of incidence. Objectives: Identify the frequency of occurrence of urinary metabolic disorders in Cuban urolithiasis patients with and without ADPKD. Methods: A descriptive cross-sectional study was conducted of 579 adult patients without ADPKD selected by simple random sampling, and 21 patients with ADPKD, from the total urolithiasis patients undergoing renal metabolic evaluation at the Renal Physiopathology Laboratory of the Institute of Nephrology in the period 2010-2015. Data were obtained from medical records and reports of renal metabolic studies. Information was processed with the statistical software SPSS version 22.0. Average and standard deviation were estimated and use was made of frequency distribution analysis and homogeneity testing. Results: A predominance was found of female sex among patients with ADPKD (57.1 percent) and male sex among patients without ADPKD (63.4 percent). The most common disorders were hypercalciuria (45.3 percent) and hypophosphatemia (17.1 percent) in the non-polycystic population, and increased uric acid clearance (38.1 percent) and hypercalciuria (23.8 percent) in polycystic patients. Statistically significant differences were found in uric acid clearance increase (p = 0.01) and hyperphosphatemia (p = 0.04). Conclusions: The main metabolic disorders of lithiasis patients, polycystic as well as non-polycystic, are increased uric acid clearance, hypercalciuria, hyperuricosuria and hypophosphatemia, with a varying order of presentation. Increased uric acid clearance and hyperphosphatemia are more common in polycystic lithiasis patients(AU)

Asociación VACTERL con poliquistosis renal en un recién nacido: reporte de caso

Las malformaciones son causas importantes de mortalidad infantil, enfermedad crónica y discapacidad en muchos países, y ocasionan 3,2 millones de discapacidades al año. La asociación VACTERL involucra defectos vertebrales, atresia anal, fístula traqueoesofágica y displasia renal, así como anormalidades en las extremidades. Nuestro objetivo es describir las características generales de la asociación VACTERL y realizar un acercamiento a otros casos en la literatura. Nuestro caso trata de una recién nacida a las 35 semanas con grave dificultad respiratoria, que ingresa a la UCI neonatal por descompensación hemodinámica. Tiene un antecedente de poliquistosis renal bilateral a las 25 semanas dado por ecografía. En el examen físico se evidencia agenesia de órganos sexuales y ano imperforado, y en la radiografía se observa patrón atelectásico, cardiomegalia y posición dextrógira de la silueta cardiaca. La paciente fue diagnosticada con asociación VACTERL y ano imperforado. Sufrió un paro respiratorio y falleció luego de dos días.

Malformations are important causes of infant mortality, chronic disease and disability in many countries, causing 3.2 million disabilities per year. The VATERL association includes vertebral defects, anal atresia, tracheoesophageal fistula and renal dysplasia, as well as limb abnormalities. This case report aims to provide the general characteristics of the VACTERL association and discuss other cases found in the medical literature. This is the case of a female newborn delivered at 35 weeks of pregnancy with severe respiratory distress, who was admitted to the neonatal ICU due to hemodynamic decompensation. She had a history of bilateral polycystic kidney disease found by ultrasound at 25 weeks of pregnancy. A physical examination showed vaginal agenesis and imperforate anus. Atelectasis, cardiomegaly and dextroposition of the cardiac silhouette were observed in a radiography. The patient was diagnosed with VACTERL association and imperforate anus. She died 2 days after a respiratory arrest.

Are Saunas Beneficial or Harmful for Autosomal Dominant Polycystic Kidney Disease? Examination with Model Mouse / 日本温泉気候物理医学会雑誌

  Background: Heat shock proteins (Hsps), expression of which are induced by thermal treatment, function in the protection of kidneys by suppressing apoptosis and maintaining renal tubular viability. Moreover, recently, it has been indicated that the expression of Hsps can be a therapeutic target for autosomal dominant polycystic kidney disease (ADPKD). We investigated the effect of dry sauna therapy on ADPKD model mice.  Methods and Results: The mice (male DBA/2FG-pcy mice) were categorized into three groups: controls, TS: pcy mice subjected to prolonged sauna with administered water containing 4% sucrose, SW: pcy mice administered water containing 4% sucrose. The TS group was subjected to sauna sessions twice a week for four weeks. The TS group attained and were maintained at rectal temperatures of approximately 39.0°C, until they were carefully removed from the far infrared-ray device. After 4 weeks of sauna treatment, creatinine and blood-urea-nitrogen (BUN) levels determined by an enzymatic method. The heat shock protein (HSP) or cell growth and size related proteins were analyzed by western blotting. The TS group exhibited marginally higher creatinine and BUN levels than did the control and SW groups, however, the differences were not significant. However, cyst enlargement in the TS group reduced significantly compared to that of the control group. HSP90 expression was slightly decreased in the TS and SW groups relative to the control group (p < 0.01 or p < 0.001, vs. control), as was Erk expression, which is linked to cyst development and proliferation (p < 0.05, TS vs. control). Hsp27 expression and phosphorylation level in the SW group were comparable with that of the control group. However, the TS group had increased levels of Hsp27 and phosphorylation (NS). The expression of pro-caspase-3 in the TS group was marginally lower than that in the control group. However, the activity of caspase-3 in all groups showed no differences.  Conclusion: The findings of this study indicated that 4 weeks of sauna treatment could cause transient dehydration and related renal dysfunction and led to the risk of stimulating cyst growth by increased Hsp27 expression. Moreover, we concluded that prevention of dehydration and cyst growth could be suppressed by taking an appropriate amount of water directly after sauna treatment.

Intracapsular infection of polycystic kidney disease and renal transplantation / 器官移植

Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic hereditary kidney disease, which can progress into end-stage renal disease (ESRD). Patients with ADPKD constantly suffer from recurrent intracapsular infection. The drug resistance caused by antibiotic treatment is becoming increasingly prominent. The pattern of renal transplantation should be selected according to the infection of polycystic kidney disease. In this article, the origin of renal cyst, classification and source of cystic fluid, type and drug resistance of bacteria in the cystic fluid, and intracapsular infection of patients with renal transplantation- associated ADPKD were reviewed, aiming to provide reference for the diagnosis and treatment of intracapsular infection of patients with ADPKD.

Chronic brucellosis with hepatic brucelloma and AA amyloidosis in a patient with autosomal dominant polycystic kidney disease

We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium. The autopsy revealed multiple tumor-like masses in the liver, which on histological examination depicted multiple large suppurative granulomas with the presence of variable acid-fast coccobacilli (consistent with Brucella spp.). Interestingly, extensive amyloid deposition in multiple organs was noted. To the best of our knowledge, this is the first case of chronic brucellosis causing tumor-like abscesses in the liver accompanied by secondary systemic amyloidosis in a patient with underlying autosomal dominant polycystic kidney disease.