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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.
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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.
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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.
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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.
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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.
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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.
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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)
Subject(s)
Humans , Male , Female , Urination Disorders , Polycystic Kidney, Autosomal Dominant , Urolithiasis , Polycystic Kidney Diseases/genetics , Epidemiology, Descriptive , Cross-Sectional Studies , Hypophosphatemia , Hypercalciuria , Observational StudyABSTRACT
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.
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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.
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OBJECTIVE@#To investigate the optimal dose range of immunosuppressants in patients with autosomal dominant polycystic kidney disease (ADPKD) after renal transplantation.@*METHODS@#A cohort of 68 patients with ADPKD who received their first renal transplantation between March, 2000 and January, 2018 in our institute were retrospectively analyzed, with 68 non-ADPKD renal transplant recipients matched for gender, age and date of transplant as the control group. We analyzed the differences in patient and renal survival rates, postoperative complications and concentrations of immunosuppressive agents between the two groups at different time points within 1 year after kidney transplantation. The concentrations of the immunosuppressants were also compared between the ADPKD patients with urinary tract infections (UTI) and those without UTI after the transplantation.@*RESULTS@#The recipients with ADPKD and the control recipients showed no significantly difference in the overall 1-, 5-, and 10- year patient survival rates (96.6% 96.0%, 94.1% 93.9%, and 90.6% 93.9%, respectively; > 0.05), 1-, 5-, and 10-year graft survival rates (95.2% 96.0%, 90.8% 87.2%, and 79.0% 82.3%, respectively; > 0.05), or the incidences of other post- transplant complications including acute rejection, gastrointestinal symptoms, cardiovascular events, pneumonia, and neoplasms ( > 0.05). The plasma concentrations of both tacrolimus and mycophenolate mofetil (MPA) in ADPKD group were significantly lower than those in the control group at 9 months after operation ( < 0.05). The incidence of UTI was significantly higher in ADPKD patients than in the control group ( < 0.05). In patients with ADPKD, those with UTI after transplantation had a significantly higher MPA plasma concentration ( < 0.05).@*CONCLUSIONS@#In patients with ADPKD after renal transplant, a higher dose of MPA is associated with a increased risk of UTI, and their plasma concentrations of immunosuppressants for long-term maintenance of immunosuppression regimen can be lower than those in other kidney transplantation recipients.
Subject(s)
Humans , Graft Survival , Immunosuppressive Agents , Kidney Transplantation , Polycystic Kidney, Autosomal Dominant , Retrospective StudiesABSTRACT
@#Neonates with congenital Polycystic Kidney Disease (PKD) are often associated with multiple organ abnormalities and result in poor prognosis. Renal Replacement Therapy (RRT) sometimes required to treat PKD patients with declined renal function. Peritoneal dialysis (PD) widely used as RRT due to several advantages. However, PD installment in neonates had never been performed in Yogyakarta, Indonesia, due to lack of neonatal tenckhoff and inaccuracy of dwelling scale. We present a neonate, preterm, with bilateral PKD and kidney failure, and needed performed RRT. After considering all disadvantages we performed PD in this neonate. This report will elaborate on all issues that ensued, and how to resolve it, to improve management kidney failure for neonates that requiring PD in Yogyakarta, Indonesia.
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To observe the clinical nature of ADPKD in Bangladeshipatients we studied 40 cases, among them 16 (40%) weremale and 24 (60%) female. A higher proportion of younger thanolder patients were affected (40% Vs 10%, P<0.05).Hypertension and loin pain was present in 30 (75%) and 22(55%) cases respectively. Renal function at presentation wasnormal in 20 (50%) cases, with mild to moderate and severerenal failure was present in 16 (40%) and 4 (10%) casesrespectively. Bilateral enlarged kidneys found in 30 (70%)cases. Size of kidneys varies from 12.1cm to 25.6cm. Multiplecysts in both kidneys were present in 36 (90%) patients, withhepatic and pancreatic cyst was present in 15 (37.5%) and 3(7.5%) cases respectively. Much younger patients arediagnosed as ADPKD in our population, so every effort shouldbe made for early diagnosis in suspected cases so that needfor dialysis may be reduced by retarding rate of progression byconservative measures.
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Chronic pelvic pain is a common yet difficult problem to manage, plaguing the gynecologist as well as the gastroenterologist and general surgeon. Highlighted by increased visceral hypersensitivity, endometriosis and irritable bowel syndrome (IBS) are the most common causes or chronic unrelenting pelvic pain. Recently, the similarities between the two conditions has begged the question as to whether there is any common denominator between the two conditions and their likely co-existence and mismanagement. Further, the association of polycystic ovary syndrome (PCOS) in this cohort remains definitively uncharacterized. This report details a young female patient with the triad of POCS, IBS and endometriosis presenting with chronic pelvic pain.
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Glomerulocystic kidney disease (GCKD) is an uncommon type of cystic renal disease affecting children. It has both sporadic and familial occurrence and is characterized by cortical microcysts associated with dilatation of Bowman's spaces. In some instances, GCKD is an early manifestation of autosomal dominant polycystic kidney disease. Here, we present three cases of GCKD, two in infants and one in a perinatal postmortem. The first one is a case of GCKD with unilateral involvement, diagnosed on surgical biopsy. GCKD is a morphological expression of several hereditary and nonhereditary disorders that differ vastly in their management and long-term outcome. Hence, accurate morphological diagnosis of this entity is important for prognostication and genetic counseling.
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Objective To improve the recognition and knowledge of autosomal dominant polycystic kidney disease (ADPKD) related male infertility through investigation for MRI characteristics of this disease. Methods Fourteen patients confirmed with ADPKD related obstructive azoospermia were retrospectively analyzed. All patients referred to clinic with male infertility, and obstructive azoospermia were additionally confirmed by laboratory tests and clinical examination. Subsequent abdominopelvic MR examinations were performed to comfirm obstructive factors and obstructive location. All patients were performed an abdominopelvic MR examination including non-enhanced and enhanced MR. MR imaging characteristics were analyzed and summarized by two experienced radiologists. Results MRI results for all cases were classified into 4 groups:10 cases with bilateral polycystic kidneys and bilateral seminal vesicle cysts, 2 cases with bilateral polycystic kidneys, polycystic liver and bilateral seminal vesicle cysts, 1 case with bilateral polycystic kidneys, polycystic liver and absence of bilateral seminal vesicles, 1 case with bilateral cystic kidneys, bilateral seminal vesicle cysts as well as Müllerian duct cyst. A wide range of coronal T2WI scan was necessary to observe cystic lesions in both liver and bilateral kidneys as well as abnormal changes in pelvis. The obstructive sites in all cases were located in level from ejaculatory duct to seminal vesicle. Bilateral seminal vesicle cysts presented as significantly dilated glandular ducts of seminal vesicles, in which flocculence or nodular sediment can be found. Conclusion Male infertility caused by ADPKD-related deferential duct obstrution is characterized by bilateral polycystic kidney disease and Seminal vesicle ejaculatory duct obstruction in MRI, which can be combined with other abnormalities.
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Objective To investigate the mutation types of polycystic kidney disease 1 gene (PKD1) and polycystic kidney disease 2 gene (PKD2) in Chinese patients with autosomal dominant polycystic kidney disease (ADPKD). Methods The mutations of PKD1 and PKD2 in 129 inherited ADPKD families were analyzed by long PCR and high-throughput sequencing. The positive mutation was verified by Sanger sequencing method. Results A total of 118 mutation sites of PKD1 or PKD2 in 116 inherited ADPKD families were detected from 129 families, with the detection rate being 89.9% (116/129). The mutation rates of PKD1 and PKD2 were 92.2% (107/116) and 8.6% (10/116), respectively. Of the 118 mutation sites, 80 (67.8%) were new mutations and 38 (32.2%) were known mutations; and 109 mutation sites were located in PKD1 (33 known mutations and 76 new mutations) and 9 in PKD2 (5 known mutations and 4 new mutations). Conclusion The newly discovered PKD1 and PKD2 mutations may contribute to early diagnosis and prognosis prediction of ADPKD patients, and may provide basic genetic information for clinical intervention.
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Objective: To explore the potential mechanism of male reproductive failure in autosomal dominant polycystic kidney disease (ADPKD) patients and analyze the outcomes of assisted reproductive technology treatment. Methods: Next-generation sequencing was performed for genetic diagnosis of 8 ADPKD patients, who came to International Peace Maternity & Child Health Hospital, Shanghai Jiao Tong University School of Medicine, for genetic counseling. The semen of ADPKD patients and normal males who came for pre-pregnancy consultation was collected by masturbation for sperm analysis. The ultrastructure of sperm was observed by transmission electron microscopy. Outcomes of 7 patients with ADPKD who chose preimplantation genetic testing (PGT) were compared with those of 7 patients who were dystrophin (DMD) gene mutation carriers, undergoing the PGT in the same period. Results: Eight patients with ADPKD were heterozygous for polycystin 1 (PKD1) gene. Key parameters of sperm motion including progressive motility sperm percentage, curvilinear velocity, straight-line velocity, average path velocity, amplitude of lateral head displacement were much lower than those of normal semen, showing mild to severe oligozoospermia. One ADPKD patient with severe oligoathenospermia manifested bilateral seminal vesicle cysts. Transmission electron microscopy showed that the central microtubules of the sperm flagella of ADPKD patients were absent and the surrounding double microtubules were disorganized. There was no significant difference in the number of eggs, fertilization rate, cleavage rate, effective embryo rate and excellent embryo rate between the ADPKD patients and the DMD gene mutation carriers, but the ADPKD patients were prone to early abortion. Conclusion: Male reproductive failure caused by ADPKD may be related to many factors such as abnormal structure of sperm flagella and genital cysts. Further, PKD1 mutation may play a role in embryo implantation and early development.
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Objective@#The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.@*Methods@#Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis.@*Results@#Through NGS, PCR and Sanger sequencing, the 5-yr proband in pedigree 1 was shown to carry compound heterozygous variants of c. 5935G>A(p.G1979R) and c. 5428G>T(p.E1810X) of PKHD1, originated from his parents; In pedigree 2, the 17-ys proband was detected with c. 5512T>C(p.Y1838H) and c. 5935G>A(p.G1979R) variants of PKHD1 orginated from her parents, and her mother also got prenatal diagnosis during the second trimester; In pedigree 3, the 70-ys female proband was found with variants c. 11314C>T (p.R3772X) and c. 3860T>G (p.V1287G) of PKHD1.@*Conclusion@#The three pedigrees were diagnosed as ARPKD caused by PKHD1 variants. Five types of variants were detected, c. 5935G>A and c. 11314C>T were the known pathogenic variants, while c. 5512T>C, c. 5428G>T and c. 3860T>G were not reported previously. Considering the complexity of the genetics and phenotypes of the cystic renal diseases, genetic diagnosis is crucial to give accurate etiological diagnosis, which may benefit the clinic management.
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<p><b>Objective</b>Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic renal diseases, which may cause oligoasthenospermia and azoospermia and result in male infertility. This study aimed to analyze the outcomes of preimplantation genetic diagnosis (PGD) in male patients with ADPKD-induced infertility.</p><p><b>METHODS</b>We retrospectively analyzed the clinical data on 7 male patients with ADPKD-induced infertility undergoing PGD from April 2015 to February 2017, including 6 cases of oligoasthenospermia and 1 case of obstructive azoospermia, all with the PKD1 gene heterozygous mutations. Following intracytoplasmic sperm injection (ICSI), we performed blastomere biopsy after 5 or 6 days of embryo culture and subjected the blastomeres to Sureplex whole-genome amplification, followed by haplotype linkage analysis, Sanger sequencing, array-based comparative genomic hybridization to assess the chromosomal ploidy of the unaffected embryos, and identification of the unaffected euploid embryos for transfer.</p><p><b>RESULTS</b>One PGD cycle was completed for each of the 7 patients. Totally, 26 blastocysts were developed, of which 12 were unaffected and diploid. Clinical pregnancies were achieved in 6 cases following 7 cycles of frozen embryo transplantation, which included 5 live births and 1 spontaneous abortion.</p><p><b>CONCLUSIONS</b>For males with ADPKD-induced infertility, PGD may contribute to high rates of clinical pregnancy and live birth and prevent ADPKD in the offspring as well. This finding is also meaningful for the ADPKD patients with normal fertility.</p>
Subject(s)
Female , Humans , Male , Pregnancy , Abortion, Spontaneous , Genetics , Biopsy , Blastocyst , Comparative Genomic Hybridization , Embryo Transfer , Infertility, Male , Genetics , Mutation , Polycystic Kidney, Autosomal Dominant , Diagnosis , Genetics , Pregnancy Outcome , Preimplantation Diagnosis , Retrospective Studies , Sperm Injections, IntracytoplasmicABSTRACT
A 47-year-old female previously diagnosed with ADPKD visited the hospital due to sudden pain in her upper abdomen and back. Esophagogastroduodenoscopy, contrast-enhanced abdominal computed tomography (CT), and CT angiography identified an esophageal artery pseudoaneurysm and hematoma in the esophagus. Urgent angiography and embolization were performed. After the procedure, CT angiography and positron emission tomography were performed due to differences in blood pressure between the arms. The patient was also found to have Takayasu arteritis and subsequently received outpatient follow-up care. The possible mechanisms that cause vascular abnormalities in ADPKD patients include damaged vascular integrity due to abnormal polycystin expression caused by PKD mutations and connective tissue abnormalities. Further research is needed to confirm these mechanisms, and ADPKD patients should be assessed for vascular abnormalities.