An Ethical Analysis of Therapy for Severe Congenital Kidney and Urinary Tract Anomalies.

Technological advancements before and after delivery have greatly altered the counseling of pregnant patients facing a fetal diagnosis of severe oligohydramnios or anhydramnios secondary to congenital anomalies of the kidneys and urinary tract. Once considered a nearly uniformly lethal abnormality, long-term survival may now be possible secondary to prenatal innovations aimed at restoring the amniotic fluid volume and the availability of more advanced neonatal dialysis techniques. However, these available therapies are far from perfect. The procedures are onerous for pregnant patients without a guarantee of success, and families must prepare themselves for the complex life-long medical care that will be necessary for surviving individuals. Multidisciplinary counseling is imperative to help pregnant individuals understand the complexity of these conditions and assist them in exercising their right to informed decision-making. Moreover, as with any developing field of medicine, providers must contend with ethical questions related to the treatment options, including questions regarding patient-hood, distributive justice, and the blurred lines between research, innovation, and standard care. These ethical questions are best addressed in a multidisciplinary fashion with consideration of multiple points of view from various subspecialties. Only by seeing the entirety of the picture can we hope to best counsel patients about these highly complex situations and help navigate the most appropriate care path.

Congenital anomalies of the kidney and urinary tract: antenatal diagnosis, management and counselling of families.

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes.Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered.

Congenital Anomalies of the Kidneys and Urinary Tract.

Congenital anomalies of the kidneys and urinary tract (CAKUT) are some of the most common abnormalities detected on prenatal imaging assessment. It is estimated that CAKUT comprises 20% to 30% of all major birth defects. More than 200 clinical syndromes currently include CAKUT as a component of the phenotype. This chapter outlines the evaluation and management of the most common forms of CAKUT.

Successful pregnancy and term delivery after treatment of unicornuate uterus with non-communicating rudimentary horn pregnancy with local methotrexate injection followed by laparoscopic resection: a case report and literature review.

BACKGROUND: Pregnancy in a rudimentary horn is an extremely rare type of ectopic pregnancy. A rudimentary uterine horn pregnancy is associated with a risk of spontaneous rupture and bleeding during surgery due to the increased uterine blood flow. Recent advances in imaging modalities have enabled laparoscopic surgery to be performed in cases without rupture in the early stages of pregnancy. However, there are few reports of successful pregnancies and deliveries after treatment of rudimentary horn pregnancies. We report the successful management of a case of non-communicating rudimentary horn pregnancy by local injection of methotrexate followed by complete laparoscopic excision along with a review of the literature. CASE PRESENTATION: The patient was a 29-year-old Japanese woman, gravida 2, nullipara. She was diagnosed with a left unicornuate uterus with a right non-communicating rudimentary horn on hysterosalpingography and magnetic resonance imaging. A gestational sac with a heartbeat was observed in the right rudimentary uterine horn at 6 weeks of gestation. A diagnosis of ectopic pregnancy in a non-communicating rudimentary horn was made. Color Doppler detected multiple blood flow signals around the gestational sac, which were clearly increased compared to the left unicornuate uterus. Her serum human chorionic gonadotropin level was 104,619 mIU/ml. A 100 mg methotrexate injection into the gestational sac was administered, and laparoscopic surgery was performed on day 48 after the methotrexate treatment. The right rudimentary horn and fallopian tube were successfully excised with minimal bleeding. A spontaneous normal pregnancy was established 6 months after the surgery. The pregnancy was uneventful, and a baby girl was born by elective cesarean section at 38w0d. CONCLUSION: Combined local methotrexate injection and laparoscopic surgery are safe treatment options for patients with a unicornuate uterus with a non-communicating rudimentary horn pregnancy.

The impact of congenital uterine abnormalities on pregnancy and fertility: a literature review.

Congenital abnormalities of the uterus result primarily from embryological maldevelopment of the paramesonephric ducts and have been associated with pregnancy complications, reduced fertility, and other adverse fetal outcomes. While such abnormalities are rare, affected patients should be correctly managed to improve psychological, sexual, and reproductive outcomes. This review intends to elucidate the impact of congenital uterine abnormalities on fertility and pregnancy outcomes. We also present the available management methods and discuss the role of assisted reproductive technologies (ART) to benefit affected women. This review clearly shows that although these disorders are generally not lethal, they critically impact the patient's reproductive health. The fertility rate of patients with uterine congenital abnormalities depends on the severity of the condition. Reproductive endocrinologists and infertility specialists must be considered as active parts of the interdisciplinary treatment team for such patients. ART practices are reasonably successful at managing fertility problems of women with these abnormalities.

[Uterine arteriovenous malformation: about two cases at the University Hospital of Guadeloupe]. / Malformation artério-veineuse utérine: à propos de deux cas au Centre Hospitalier Universitaire de la Guadeloupe.

Uterine arteriovenous malformations are possible causes of persistent metrorrhagia, in particular in patients with a history of abortion and trophoblast diseases. We here report the diagnostic and therapeutic features of two patients with uterine arteriovenous malformations complicating post-abortion in the Maternity Ward of the University Hospital of Pointe-a-Pitre in Guadeloupe. Patients had metrorrhagias after abortion with curettage. Arteriovenous malformation was suspected based on ultrasound combined with Doppler. Arteriography confirmed the diagnosis and allowed, in the same time, for conservative treatment by arterial embolization. No complication was reported. The lack of knowledge about uterine arteriovenous malformations can lead to deleterious consequences ranging from haemostatic hysterectomy due to cataclysmic hemorrhage to death.

Combined transvaginal and transabdominal oocyte retrieval in a patient with an ectopic ovary and unicornuate uterus.

OBJECTIVE: To report the utility of combined transvaginal and transabdominal oocyte retrieval in a patient with an ectopic ovary and unicornuate uterus. DESIGN: Video case report with demonstration of oocyte retrieval technique. SETTING(S): University-affiliated fertility center. PATIENT(S): A 35-year-old woman, gravida 0, with a 6-month history of infertility who presented to our center for fertility evaluation. Hysterosalpingography revealed a left unicornuate uterus and patent left fallopian tube magnetic resonance imaging and laparoscopy showed a right ectopic ovary located in the upper abdomen. Her partner was a 36-year-old male with isolated teratozoospermia. The couple did not conceive with intrauterine insemination. INTERVENTION(S): Ovarian stimulation for in vitro fertilization (IVF). Transvaginal retrieval of oocytes from the right ovary was not deemed possible due the anatomic location of the ovary, intervening blood vessels, and limited mobility of the ovary. Institutional review board approval was not required for this case report as per our institution's policy; patient consent was obtained for publication of the case. MAIN OUTCOME MEASURE(S): Transabdominal retrieval of oocytes from the right ovary and transvaginal retrieval of oocytes from the left ovary. RESULT(S): The couple underwent two IVF cycles. Nine oocytes were retrieved during the first IVF cycle: seven transabdominal (right ovary) and two transvaginal (left ovary). All oocytes were mature, and five blastocysts were cryopreserved. Eight oocytes were retrieved during the second IVF cycle, of which five oocytes were retrieved transabdominally from the right ovary, and three oocytes were retrieved transvaginally from the left ovary. All oocytes were mature, and four blastocysts were cryopreserved. A single thawed embryo was transferred in the natural menstrual cycle, which resulted in the live birth of a full-term baby boy weighing 2,410 grams. CONCLUSION(S): The current case highlights the safety and feasibility of combined transvaginal and transabdominal oocyte retrieval in patients with an ectopic ovary located in the upper abdomen.

Bioengineering of the Uterus.

Impairment of uterine structure and function causes infertility, pregnancy loss, and perinatal complications in humans. Some types of uterine impairments such as Asherman's syndrome, also known as uterine synechiae, can be treated medically and surgically in a standard clinical setting, but absolute defects of uterine function or structure cannot be cured by conventional approaches. To overcome such hurdles, partial or whole regeneration and reconstruction of the uterus have recently emerged as new therapeutic strategies. Transplantation of the whole uterus into patients with uterine agenesis results in the successful birth of children. However, it remains an experimental treatment with numerous difficulties such as the need for continuous and long-term use of immunosuppressive drugs until a live birth is achieved. Thus, the generation of the uterus by tissue engineering technologies has become an alternative but indispensable therapeutic strategy to treat patients without a functional or well-structured uterus. For the past 20 years, the bioengineering of the uterus has been studied intensively in animal models, providing the basis for clinical applications. A variety of templates and scaffolds made from natural biomaterials, synthetic materials, or decellularized matrices have been characterized to efficiently generate the uterus in a manner similar to the bioengineering of other organs and tissues. The goal of this review is to provide a comprehensive overview and perspectives of uterine bioengineering focusing on the type, preparation, and characteristics of the currently available scaffolds.

Management of the Transitional Urology Patient: the Role of the Adult Reconstructive Urologist.

PURPOSE OF REVIEW: Patients with congenital urologic conditions present unique challenges as adults. Herein, we review the literature relevant to the adult reconstructive urologist confronted with complex surgical concerns affecting their patients with a history of hypospadias, spina bifida, and other syndromes affecting the genitourinary tract. RECENT FINDINGS: Urethral stricture disease related to hypospadias is complex, but successful urethroplasty and penile curvature correction can be achieved with an anatomically minded approach. Multiple urinary diversion techniques can be considered in a patient-centered approach to bladder management in the adult spina bifida patient, but complications are common and revision surgeries are frequently required. Strong evidence is lacking for most surgical techniques in this population, but experiences reported by pediatric and adult urologists with genitourinary reconstruction training can help foster consensus in decision-making. Urologists trained in genitourinary reconstruction may be uniquely positioned to care for the transitional urology patient as they enter adolescence and adulthood.

Uterine Arteriovenous Malformations.

Uterine arteriovenous malformations are rare but may represent a life-threatening cause of vaginal bleeding. The typical patient affected is a multiparous woman during her thirties. The origin can be congenital or acquired, with the latter being more common after uterine surgery and presenting mainly as arteriovenous fistulous connections into the myometrium supplied by uterine arteries. The correct diagnosis of uterine arteriovenous malformations requires imaging findings of tubular and tortuous structures with mixed signal from arterial and venous flows; transvaginal color-Doppler ultrasound is the initial technique applied, then integrated with contrast-enhanced magnetic resonance or computed tomography. Multiple treatment approaches are available, including conservative-medical, endovascular embolization and surgery. Transarterial embolization represents the most applied, preserving childbearing capacity with negligible procedural complications; clinical and technical success rates are elevated, up to 90%. The goal of embolization is to occlude the point of fistula or the nidus and the application of multiple embolizing agents has been reported: despite there is no clear superiority of one over the others, liquids, especially those related to the dymethil-sulfoxide family, present relevant technical advantages. Surgery is nowadays to be considered when the endovascular approach fails and in these cases hysterectomy remains the common recommendation.

Renal morphology and function from childhood to adulthood in Turner syndrome.

BACKGROUND: Turner syndrome (TS) is a chromosomal disorder with various complications, including congenital anomaly of the kidney and urinary tract (CAKUT). However, its renal function remains poorly known. Therefore, this study aimed to evaluate renal function in TS of various ages from childhood to adulthood. METHODS: We retrospectively analyzed 63 patients with TS who visited our hospital between 1989 and 2020, examined their renal morphology, and analyzed renal function by calculating the estimated glomerular filtration rate (eGFR) using formulas applicable for Japanese populations. RESULTS: Renal morphological abnormality was observed in 22 cases (35.0%) (horseshoe kidney, 7 [11.1%]; hydronephrosis, 11 [17.5%]; duplex collecting system, 3 [4.8%]; and single unilateral kidney, 1 [1.6%]). We evaluated the eGFR of 47 subjects aged 2.8-39.3 years and classified them into Group 1 (with CAKUT, n = 15) and Group 2 (without CAKUT, n = 32). The eGFR at the first visit and the final follow-up was not statistically different between these groups. In Group 1 with CAKUT, the eGFR was not significantly different between that at the first visit and that at the final follow-up (p = 0.21). During the observation period (median, 7.9 years), the eGFR of all individuals in both groups gradually decreased with age, but did not fall < 60 mL/min/1.73 m2, which defines chronic kidney disease (CKD). CONCLUSIONS: The renal function of TS remained normal in all cases during our investigation period, and no one developed CKD by the age of 40 years.

Chronic kidney disease and upper tract concerns after congenital and acquired urinary tract abnormalities: considerations for transition of care in teens and young adults.

PURPOSE: To emphasize the burden that chronic kidney disease (CKD) and its complications place on overall health and well-being over the lifetime in individuals with congenital and acquired urinary tract abnormalities. METHODS: Topic-based literature review was performed and professional opinion was obtained to describe the scope of medical challenges faced by both teens and adults and their health care providers in the context of congenital and acquired urinary tract abnormalities. RESULTS: Challenges include accurate assessment of glomerular filtration rate; engaging for consistent surveillance of blood pressure, proteinuria, and medical complications of CKD that increase the risk of progression to end-stage renal disease and affect general health; achieving early referral to nephrology for better outcomes; managing renal complications within the unique limitations of lower urinary tract function; treating upper tract urolithiasis in the atypical urinary tract; and preparing for successful renal transplant. CONCLUSION: In individuals with congenital or acquired abnormalities of the urinary tract, there is an inherent risk of CKD with its associated morbidity and increased mortality risk. Interplay between the upper and lower urinary tract impacts CKD progression. Collaborative management between urology and nephrology is highly recommended to address the unique challenges for each individual over the lifetime.

Challenges of access to kidney care for children in low-resource settings.

Kidney disease is a global public health concern across the age spectrum, including in children. However, our understanding of the true burden of kidney disease in low-resource areas is often hampered by a lack of disease awareness and access to diagnosis. Chronic kidney disease (CKD) in low-resource settings poses multiple challenges, including late diagnosis, the need for ongoing access to care and the frequent unavailability of costly therapies such as dialysis and transplantation. Moreover, children in such settings are at particular risk of acute kidney injury (AKI) owing to preventable and/or reversible causes - many children likely die from potentially reversible kidney disease because they lack access to appropriate care. Acute peritoneal dialysis (PD) is an important low-cost treatment option. Initiatives, such as the Saving Young Lives programme, to train local medical staff from low-resource areas to provide care for AKI, including acute PD, have already saved hundreds of children. Future priorities include capacity building for both educational purposes and to provide further resources for AKI management. As local knowledge and confidence increase, CKD management strategies should also develop. Increased awareness and advocacy at both the local government and international levels will be required to continue to improve the diagnosis and treatment of AKI and CKD in children worldwide.

Exploration of postnatal integrated management for prenatal renal and urinary tract anomalies in China.

Objective: The aim of this prospective observational study was to establish a suitable model for the postnatal follow-up and management of prenatal renal and urinary tract anomalies in Shanghai, China.Methods: Minhang and Changning maternal child health care hospitals were selected to establish the integrated management model. Newborns with prenatal renal and urinary tract anomalies in these two centers were eligible to participate in the study from 2015 to 2017. All newborns were classified into three groups based on prenatal findings: (1) severe/complex urinary tract dilatation (UTD) with ureterectasia, (2) other renal and urinary tract abnormalities, and (3) isolated mild to moderate UTD. The newborns underwent their first postnatal ultrasound and follow-up according to the presumed management strategy. Demographic and clinical data were collected from all institutes.Results: A total of 129 newborns fulfilled the study criteria, and 121 completed the postnatal evaluation. Ten newborns in group 1 (n = 13) were diagnosed with obstructive uropathy, including 9 with ureteropelvic junction obstruction (UPJO) and one with megaureter. All 13 newborns in group 2 had consistent postnatal results and were followed under previously established procedures. Sixty-seven cases in group 3 (n = 95) had a UTD at their first scan at 42 postnatal days, and two were diagnosed with UPJO. A total of 2 infants with UPJO underwent surgery, and 71 (65.7%, 71/108) of the UTD cases were resolved.Conclusions: The majority of the patients had a favorable outcome. Close multidisciplinary collaboration among obstetricians, neonatologists, pediatricians, and pediatric nephrologists and urologists is mandatory.

The basics of transition in congenital lifelong urology.

PURPOSE: Transition in urology is defined by the process that allows an adolescent or a young adult with a congenital or acquired urogenital anomaly to assume increasing responsibility for their own health care and to become the primary decision maker in their care. METHODS: A review of the literature regarding transitional care for lifelong urologic congenital anomalies was performed with the aim of reporting expert opinion when data are non-existent. This review focuses on special considerations for adolescents and young adults with spina bifida, bladder exstrophy, anorectal malformations and differences of sexual development. RESULTS: Urologic goals during the transition from childhood to adulthood continue to include attention to the preservation of renal function and optimization of lower urinary tract function. Additional concerns include care to decrease long-term surgical complications (especially after augmentation cystoplasty), to monitor for malignancy, to prepare for sex activity and fertility, and to help the adult patient in decision making. Transition aims to maximize quality of life and independence by ensuring uninterrupted appropriate care through a multidisciplinary approach which varies by geographical location and healthcare setting. Barriers include patient and family factors as well as provider and system related factors. A dedicated team is an important element of successful transition.

A Review of Mullerian Anomalies and Their Urologic Associations.

Structural anomalies of the female reproductive tract, known as Mullerian anomalies, can occur in isolation or in association with anomalies of other organ systems. Due to shared embryology, the most common association in up to 40% of patients is with renal, ureteral, and bladder anomalies. Affected girls can have a wide range of genitourinary symptoms with urologists playing an integral role in their diagnosis and treatment. To facilitate the recognition and management of these conditions, we provide a review of Mullerian anomalies including the embryology, classifications, syndromes, evaluation, and treatments with attention to their urologic applicability.

Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations.

Congenital absence of the vas deferens (CAVD) is a rare genetic condition first discovered in the mid-18th century related to mutations in the cystic fibrosis transmembrane regulatory genes. The condition is typically found during work-up of male infertility, and the majority of cases can be diagnosed with complete history and physical examination and pertinent investigations. The condition can be separated into three subcategories, and genetic advances have led to a much better understanding behind the disease, its pathogenesis, and options for treatment. In this review, we discuss the genetics, pathogenesis, embryology, and diagnosis of treatment of CAVD. Future work in this area likely will aim to better understand the epigenetic factors that influence the development of the condition in order to identify potential upstream therapeutic targets.

Creating a collaborative program for the care of children with colorectal and pelvic problems.

The treatment of patients with colorectal disorders and their associated urologic, gynecologic, gastrointestinal, spinal, and orthopedic anomalies requires care from various medical and surgical specialties over the course of their lifetime. This is ideally handled by a collaborative center which facilitates the assessment and development of a long-term patient care plan among multiple specialties which can enhance the quality of care, improve communication among different specialties, and improve patient satisfaction and outcomes. We describe the process, as well as lessons learned in developing such a center.

Long-term urologic and gynecologic follow-up and the importance of collaboration for patients with anorectal malformations.

Anorectal malformations (ARM) are well recognized to be associated with anomalies in other organ systems. The introduction of screening protocols has increased the diagnosis of these anomalies and greater collaboration with other specialties has influenced the treatment and follow-up of patients with ARMs. Much of the medical literature regarding the treatment of anorectal malformations has focused on technical details of operations and early post-surgical outcomes. Recently, an increase in published data regarding the long-term sequelae of an ARM diagnosis has resulted in an emphasis extended follow up in this population. Patient support groups have highlighted complex issues in ARM patients persist into adulthood have advocated for improved transitional care. This article describes the benefits of long-term follow-up and identifies key issues in ARM patients with respect to urologic and gynecologic health. A collaborative model of care is outlined and suggested timings of screening for potential problems is described.