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INTRODUCTION: Herlyn-Werner-Wunderlich syndrome , a rare Müllerian ducts congenital disease, is characterized by a diphtheritic uterus, blind hemivagina, and ipsilateral renal agenesis. Diagnosis is at young age by ultrasound and magnetic resonance imaging, and the prognosis is good. Usually, complications evolve endometriosis and secondary pelvic inflammation. CASE REPORT: A 40-year-old female patient, Brazilian, white, primigravida, diagnosed at 30 years with a didelphic uterus on ultrasound, and 4 years later, with a left ovarian endometrioma, multiple ovarian cysts, and left renal agenesis on magnetic resonance imaging. Subsequently, due to dyspareunia and a feeling of swelling, the patient underwent transvaginal ultrasound with bowel preparation, and a hematocolpos was found and Herlyn-Werner-Wunderlich syndrome was suspected; 10 years after the diagnosis she had a planned pregnancy. She presented frequent contractions following the 15th week of pregnancy and fortunately there were no complications or premature labor. Labor was inducted at 40 weeks and 6 days without progress and a cesarean section was indicated and performed without complications. Herlyn-Werner-Wunderlich syndrome often goes unnoticed, leading to inadequate treatment. Individuals with Herlyn-Werner-Wunderlich syndrome commonly face fertility issues, such as high miscarriage rate (21-33%), and obstetric complications, such as spontaneous abortions (40% risk), intrauterine growth restriction, postpartum hemorrhage, increased fetal mortality, preterm delivery (21-29%), and elevated rates of cesarean sections. In addition, there is higher susceptibility of developing endometriosis, especially with hemivaginal obstruction, and pelvic adhesions. CONCLUSION: Early diagnosis enables timely treatment and, consequently, fewer complications. Still, when these factors are absent, vaginal birth may still be possible. The true prevalence and incidence of complications related to Herlyn-Werner-Wunderlich syndrome are still unknown.
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Endometriose , Humanos , Feminino , Adulto , Endometriose/complicações , Gravidez , Útero/anormalidades , Útero/diagnóstico por imagem , Cesárea , Rim/anormalidades , Ductos Paramesonéfricos/anormalidades , Anormalidades Múltiplas , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/diagnóstico por imagem , Vagina/anormalidades , Complicações na Gravidez , Nefropatias/congênito , Nefropatias/diagnósticoRESUMO
BACKGROUND: Crossed fused renal ectopia (CFRE) is a common congenital anomaly where one kidney is positioned abnormally on the opposite side of the midline, often fused with the other kidney. However, single ureter draining crossed fused renal ectopia is a rare occurrence. CASE REPORT: Here, we report a case of crossed fused renal ectopia with a single ureter in a 46-year-old Nepali male who presented with history of lithuria. Computed tomography revealed that the left kidney was situated on the right side and fused with the right kidney. The renal pelvises of both kidneys were fused, and a single ureter, located on the right side, was draining both kidneys into the bladder. The patient was advised to have regular follow-ups. CONCLUSION: Crossed fused renal ectopia with a single ureter represents a rare renal anomaly. Asymptomatic patients can typically be managed conservatively. Regular follow-up is recommended to monitor renal function, calculus formation, infections, and malignant changes.
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Rim , Tomografia Computadorizada por Raios X , Ureter , Humanos , Masculino , Pessoa de Meia-Idade , Ureter/anormalidades , Ureter/diagnóstico por imagem , Rim/anormalidades , Rim/diagnóstico por imagem , Rim Fundido/complicações , Rim Fundido/diagnóstico por imagemRESUMO
El síndrome de Herlyn-Werner Wünderlich, también llamado OHVIRA por sus siglas en inglés (obstructed hemivagina and ipsilateral renal anomaly), es una anomalía congénita mülleriana poco frecuente que se caracteriza por la asociación entre útero didelfo, hemivagina obstruida y agenesia renal ipsilateral. La presentación clínica más común es la masa abdominal secundaria a hematocolpos, dolor y dismenorrea. Se asocia a infertilidad, endometriosis, alteraciones menstruales y obstétricas. La ecografía es la técnica de elección para la evaluación inicial, mientras que la resonancia magnética sigue siendo el método más exacto para el diagnóstico. La septotomía vaginal es el tratamiento recomendado. Se describen 2 casos clínicos con el objetivo de destacar la importancia del diagnóstico temprano para evitar las posibles complicaciones futuras.
Herlyn-Werner-Wunderlich syndrome, also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), is a rare, congenital Müllerian duct anomaly characterized by the association of septate uterus, obstructed hemivagina, and ipsilateral renal agenesis. The most common clinical presentation is an abdominal mass secondary to hematocolpos, pain, and dysmenorrhea. It is associated with infertility, endometriosis, and menstrual and obstetric alterations. The ultrasound is the technique of choice for the initial assessment, while the magnetic resonance imaging remains the most accurate method for diagnosis. The resection of the vaginal septum is the recommended treatment. Here we describe 2 clinical cases to highlight the importance of an early diagnosis to prevent potential complications in the future.
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Humanos , Feminino , Criança , Adolescente , Vagina/anormalidades , Anormalidades Múltiplas/diagnóstico , Rim/anormalidades , Rim/diagnóstico por imagem , Síndrome , Útero/anormalidades , Útero/diagnóstico por imagem , Ductos Paramesonéfricos/anormalidadesRESUMO
A 27-year-old nulliparous woman presented with a feeling of fullness in the lower abdomen and abdominal pain. A left ovarian tumor, uterus didelphys, left renal agenesis, and left vaginal atresia were observed on imaging. The ovarian tumor was presumed to have caused the abdominal pain, and an abdominal left adnexectomy was performed. After 3 months, she reported severe lower abdominal pain during menstruation. Transvaginal ultrasonography revealed uterine enlargement. After 17 days, the patient presented with abdominal pain and fever. She was diagnosed with peritonitis due to infection and left uterine hematometra. Because she did not improve with antibiotic treatment, left laparoscopic hysterectomy was performed. Subsequently, she did not experience the lower abdominal pain. Appropriate diagnosis and treatment based on the morphology of the reproductive tract and symptoms must be considered in patients with Herlyn-Werner-Wunderlich syndrome. Treatment must permit the outflow of menstrual blood.
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Hematometra , Útero , Vagina , Humanos , Feminino , Adulto , Síndrome , Vagina/anormalidades , Vagina/cirurgia , Útero/anormalidades , Útero/cirurgia , Hematometra/etiologia , Hematometra/diagnóstico , Rim/anormalidades , Rim/diagnóstico por imagem , Neoplasias Ovarianas/cirurgia , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/diagnóstico , Anormalidades Múltiplas/cirurgia , Histerectomia , Anormalidades Congênitas/cirurgia , Anormalidades Congênitas/diagnósticoRESUMO
Kidney failures in infants are mostly caused by congenital anomalies of the kidney and urinary tract (CAKUT), which are among the most common congenital birth disorders worldwide when paired with cardiac abnormalities. People with CAKUT often have severe kidney failure as a result of a wide range of abnormalities that can occur alone or in conjunction with other syndromic disorders. In this study, we aimed to investigate the expression pattern of CAKUT candidate genes alpha-8 integrin (ITGA8) and Van Gogh-like 2 (VANGL2) in fetal tissues of healthy and CAKUT-affected kidneys using immunohistochemistry and immunofluorescence. We found that under CAKUT circumstances, the expressions of ITGA8 and VANGL2 are changed. Additionally, we showed that VANGL2 expression is constant during fetal aging, but ITGA8 expression varies. Moreover, compared to normal healthy kidneys (CTRL), ITGA8 is poorly expressed in duplex kidneys (DKs) and dysplastic kidneys (DYS), whereas VANGL2 is substantially expressed in dysplastic kidneys (DYS) and poorly expressed in hypoplastic kidneys (HYP). These results point to VANGL2 and ITGA8 as potential prognostic indicators for CAKUT malformations. Further research is necessary to explore the molecular mechanisms underlying this differential expression of ITGA8 and VANGL2.
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Cadeias alfa de Integrinas , Rim , Humanos , Rim/metabolismo , Rim/anormalidades , Cadeias alfa de Integrinas/metabolismo , Cadeias alfa de Integrinas/genética , Refluxo Vesicoureteral/metabolismo , Refluxo Vesicoureteral/genética , Anormalidades Urogenitais/metabolismo , Anormalidades Urogenitais/genética , Proteínas de Membrana/metabolismo , Proteínas de Membrana/genética , Feminino , Sistema Urinário/metabolismo , Sistema Urinário/anormalidades , MasculinoRESUMO
PURPOSE: We investigated the postoperative renal function in persistent cloaca (PC) patients who underwent posterior sagittal anorecto-urethro-vaginopalsty (PSARUVP) and factors influencing the renal functional outcomes. METHODS: A questionnaire survey was distributed to 244 university and children's hospitals across Japan. Of the 169 patients underwent PSARUVP, 103 patients were enrolled in the present study. Exclusion criteria was patients without data of renal prognosis. RESULTS: The present study showed that renal anomalies (p = 0.09), vesicoureteral reflux (VUR) (p = 0.01), and hydrocolpos (p = 0.07) were potential factors influencing a decline in the renal function. Approximately half of the patients had a normal kidney function, but 45.6% had a reduced renal function (Stage ≥ 2 chronic kidney disease: CKD). The incidence of VUR was significantly higher in the renal function decline (RFD) group than those in the preservation (RFP) group (p = 0.01). Vesicostomy was significantly more frequent in the RFD group than in the RFP group (p = 0.04). Urinary tract infections (p < 0.01) and bladder dysfunction (p = 0.04) were significantly more common in patients with VUR than in patients without VUR. There was no association between the VUR status and the bowel function. CONCLUSIONS: Prompt assessment and treatment of VUR along with bladder management may minimize the decline in the renal function.
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Cloaca , Rim , Humanos , Japão/epidemiologia , Feminino , Masculino , Cloaca/anormalidades , Cloaca/cirurgia , Rim/anormalidades , Rim/cirurgia , Rim/fisiopatologia , Inquéritos e Questionários , Lactente , Vagina/cirurgia , Uretra/cirurgia , Uretra/anormalidades , Complicações Pós-Operatórias/epidemiologia , Canal Anal/cirurgia , Canal Anal/anormalidades , Reto/cirurgia , Recém-Nascido , Pré-EscolarRESUMO
Renal transplantation is the best modality of treatment for patients with end-stage renal disease. Donor shortage remains a substantial problem, for which different strategies are employed, including acceptance of marginal donors and donor kidneys with anatomic variations. We performed a successful kidney transplant of a donor kidney that had complete duplication of the ureter. After transplant, the recipient had no urinary complications.
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Transplante de Rim , Doadores de Tecidos , Ureter , Humanos , Transplante de Rim/efeitos adversos , Ureter/anormalidades , Ureter/cirurgia , Resultado do Tratamento , Rim/anormalidades , Rim/cirurgia , Masculino , Falência Renal Crônica/cirurgia , Falência Renal Crônica/diagnóstico , Adulto , Seleção do Doador , Feminino , Pessoa de Meia-IdadeRESUMO
The purpose of this study was to evaluate the spatiotemporal immunoexpression pattern of microtubule-associated protein 1 light chain 3 beta (LC3B), glucose-regulated protein 78 (GRP78), heat shock protein 70 (HSP70), and lysosomal-associated membrane protein 2A (LAMP2A) in normal human fetal kidney development (CTRL) and kidneys affected with congenital anomalies of the kidney and urinary tract (CAKUT). Human fetal kidneys (control, horseshoe, dysplastic, duplex, and hypoplastic) from the 18th to the 38th developmental week underwent epifluorescence microscopy analysis after being stained with antibodies. Immunoreactivity was quantified in various kidney structures, and expression dynamics were examined using linear and nonlinear regression modeling. The punctate expression of LC3B was observed mainly in tubules and glomerular cells, with dysplastic kidneys displaying distinct staining patterns. In the control group's glomeruli, LAMP2A showed a sporadic, punctate signal; in contrast to other phenotypes, duplex kidneys showed significantly stronger expression in convoluted tubules. GRP78 had a weaker expression in CAKUT kidneys, especially hypoplastic ones, while normal kidneys exhibited punctate staining of convoluted tubules and glomeruli. HSP70 staining varied among phenotypes, with dysplastic and hypoplastic kidneys exhibiting stronger staining compared to controls. Expression dynamics varied among observed autophagy markers and phenotypes, indicating their potential roles in normal and dysfunctional kidney development.
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Autofagia , Chaperona BiP do Retículo Endoplasmático , Proteínas de Choque Térmico HSP70 , Rim , Proteína 2 de Membrana Associada ao Lisossomo , Proteínas Associadas aos Microtúbulos , Humanos , Proteína 2 de Membrana Associada ao Lisossomo/metabolismo , Proteína 2 de Membrana Associada ao Lisossomo/genética , Rim/metabolismo , Rim/anormalidades , Rim/patologia , Proteínas Associadas aos Microtúbulos/metabolismo , Proteínas de Choque Térmico HSP70/metabolismo , Proteínas de Choque Térmico/metabolismo , Anormalidades Urogenitais/metabolismo , Anormalidades Urogenitais/patologia , Sistema Urinário/metabolismo , Sistema Urinário/anormalidades , Refluxo Vesicoureteral/metabolismo , Refluxo Vesicoureteral/patologiaRESUMO
Herlyn-Werner-Wunderlich (HWW) syndrome is characterized by obstructed hemivagina and ipsilateral renal anomaly, a rare congenital anomaly of the genitourinary tract, resulting from malformations of the renal tract associated with Müllerian duct anomalies. The initial symptoms of HWW frequently present after menarche and may be nonspecific, leading to a delayed diagnosis. We presented a 19-year-old female with 3-year hematuria and abdominal pain. The final diagnosis of HWW syndrome with a rare vesicovaginal fistula was made. The treatment of HWW syndrome typically involves surgical intervention. The primary treatment is resection or removal of the obstructed vaginal septum. The patient underwent excision of vaginal septum and vaginal reconstruction via hysteroscopy, as well as repair of the vesicovaginal fistula. The patient improved well after surgery and fully recovered without sequelae after 3 months. In addition, unilateral renal agenesis is one of congenital abnormalities of the kidney and urinary tract, which are the most frequent cause of chronic kidney disease (CKD) in children. This report describes a patient of HWW syndrome with rarely combined vesicovaginal fistula, and highlights the importance of early recognition and management to prevent associated complications.
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Rim , Vagina , Fístula Vesicovaginal , Humanos , Feminino , Fístula Vesicovaginal/cirurgia , Fístula Vesicovaginal/complicações , Fístula Vesicovaginal/diagnóstico , Adulto Jovem , Vagina/anormalidades , Vagina/cirurgia , Rim/anormalidades , Síndrome , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Anormalidades MúltiplasRESUMO
Detecting ureteral injury-a serious intraoperative and postoperative complication of hysterectomy-is a high level of difficulty if ureteral malformations are not identified preoperatively. A 39-year-old Japanese woman underwent total laparoscopic hysterectomy for uterine adenomyosis. During surgery, ureteral peristalsis was absent on the right side, whereas the left ureter was visible under the peritoneum. Transabdominal ultrasonography failed to locate the right kidney, with cystoscopy showing no flow from the right ureteral orifice. The ureteral tunnel was identified by tracing the vascular path of the internal iliac and uterine arteries, confirming that the corded tissue was the right ureter. Postoperative contrast-enhanced CT revealed severe right kidney atrophy with no contrast effect or connected ureter. Based on intraoperative laparoscopy and postoperative examination, a diagnosis of a unilateral ureteral scar with a proximal blind end and ipsilateral renal dysgenesis was established, marking the first reported instance of endoscopic visualization of this anomaly. In addition to normal pelvic anatomy, surgeons must consider embryological abnormalities to prevent intraoperative complications.
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Adenomiose , Histerectomia , Rim , Laparoscopia , Leiomioma , Ureter , Humanos , Feminino , Adulto , Laparoscopia/métodos , Adenomiose/cirurgia , Ureter/anormalidades , Ureter/cirurgia , Rim/anormalidades , Leiomioma/cirurgia , Neoplasias Uterinas/cirurgia , Complicações Intraoperatórias/etiologiaRESUMO
Approximately half of the cases of chronic kidney disease (CKD) in childhood are caused by congenital anomalies of the kidney and urinary tract (CAKUT). Specific genes were identified as having significant importance in regard to the underlying genetic factors responsible for the CAKUT phenotype, and in our research, we focused on analyzing and comparing the expression levels of ectodysplasin A2 receptor (EDA2R), protocadherin9 (PCDH9), and TNF receptor-associated factor 7 (TRAF7) proteins in the cortex and medulla of healthy control kidneys during developmental phases 2, 3, and 4. We also performed an analysis of the area percentages of the mentioned proteins in the cortical and medullary sections of healthy embryonic and fetal kidneys compared to those affected by CAKUT, including duplex kidneys (DK), horseshoe kidneys (HK), hypoplastic kidneys (HYP), and dysplastic kidneys (DYS). We found that the CAKUT candidate gene proteins EDA2R, PCDH9, and TRAF7 are all expressed during normal human kidney development stages. In DYS, the expression of EDA2R was higher than in normal kidneys, likely due to EDA2R's role in apoptosis, which was upregulated in specific cases and could possibly contribute to the formation of DYS. The expression of PCDH9 was lower in HK, which can be attributed to the possible role of PCDH9 in cell migration suppression. Decreased PCDH9 expression is linked to increased cell migration, potentially contributing to the development of HK. The level of TRAF7 expression was reduced in all examined kidney disorders compared to normal kidneys, suggesting that this reduction might be attributed to the crucial role of TRAF7 in the formation of endothelium and ciliogenesis, both of which are essential for normal kidney development. Further research is required to ascertain the function of these proteins in both the typical development of the kidney and in CAKUT.
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Caderinas , Rim , Anormalidades Urogenitais , Refluxo Vesicoureteral , Humanos , Caderinas/genética , Caderinas/metabolismo , Regulação da Expressão Gênica no Desenvolvimento , Rim/metabolismo , Rim/anormalidades , Rim/crescimento & desenvolvimento , Rim/embriologia , Protocaderinas , Sistema Urinário/anormalidades , Sistema Urinário/metabolismo , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/patologia , Refluxo Vesicoureteral/genética , Refluxo Vesicoureteral/patologiaRESUMO
CASE: We present a 64-year-old woman with loss of lumbar lordosis with a preoperative computed tomography scan demonstrating the presence of an intrapelvic kidney with aberrant vasculature. A 2-level anterior lumbar interbody fusion with a 2-level oblique interbody fusion was planned. An anterior approach was successfully used to access the anterior spine without damaging the pelvic kidney. CONCLUSION: Anatomic variations, both congenital and acquired, can pose significant challenges to surgeons during their dissection. We present a case where multilevel anterior interbody cage placement can be safely performed, even in a patient whose anatomy is complicated by an intrapelvic kidney.
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Vértebras Lombares , Fusão Vertebral , Humanos , Fusão Vertebral/métodos , Feminino , Pessoa de Meia-Idade , Vértebras Lombares/cirurgia , Vértebras Lombares/diagnóstico por imagem , Rim/diagnóstico por imagem , Rim/anormalidades , Rim/cirurgia , Tomografia Computadorizada por Raios XRESUMO
This case report describes a man in his 20s presenting with bilateral crypto-orchidism, micropenis and underdeveloped secondary sexual characteristics. The patient also exhibited hyposmia, eunuchoid stature and gynecomastia. Biochemical investigations revealed low levels of testosterone, luteinising hormone and follicle-stimulating hormone. Hence, he was diagnosed with Kallmann syndrome. Imaging studies showed an absent right kidney and cystic dilatation of the distal ureteric bud, seminal vesicle and absent/hypoplastic ejaculatory duct. The association of hypogonadotropic hypogonadism with Zinner syndrome, a rare condition characterised by renal agenesis, seminal vesicle cyst and ejaculatory duct obstruction, was noted.
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Hipogonadismo , Síndrome de Kallmann , Humanos , Masculino , Hipogonadismo/complicações , Hipogonadismo/diagnóstico , Síndrome de Kallmann/complicações , Síndrome de Kallmann/diagnóstico , Glândulas Seminais/anormalidades , Glândulas Seminais/diagnóstico por imagem , Rim/anormalidades , Ductos Ejaculatórios/anormalidades , Ductos Ejaculatórios/diagnóstico por imagem , Adulto , Pênis/anormalidadesRESUMO
Objective: VATER/VACTERL-like association is associated with adverse pregnancy outcomes. Genetic evidence of this disorder is sporadic. In this study, we aimed to provide genetic insights to improve the diagnosis of VACTERL. Methods: We have described a Chinese family in which four members were affected by renal defects or agenesis, anal atresia, and anovaginal fistula, which is consistent with the diagnosis of a VACTERL-like association. Pedigree and genetic analyses were conducted using genome and exome sequencing. Results: Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals, harboring a 196-380 kb microdeletion on Xq27.1, which was identified by familial exome sequencing. Genome sequencing was performed on the affected male, confirming a -196 kb microdeletion in Xq27.1, which included a 28% loss of the CDR-1 gene. Four family members were included in the co-segregation analysis, and only VACTERL-like cases with microdeletions were reported in X27.1. Conclusion: These results suggest that the 196-380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like association. However, further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.
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Canal Anal , Cromossomos Humanos X , Linhagem , Adulto , Feminino , Humanos , Masculino , Canal Anal/anormalidades , China , Deleção Cromossômica , Cromossomos Humanos X/genética , População do Leste Asiático/genética , Esôfago/anormalidades , Cardiopatias Congênitas , Rim/anormalidades , Deformidades Congênitas dos Membros/genética , Coluna Vertebral/anormalidades , Traqueia/anormalidadesRESUMO
Hepatocyte nuclear factor 1B (HNF1B) encodes a transcription factor expressed in developing human kidney epithelia. Heterozygous HNF1B mutations are the commonest monogenic cause of dysplastic kidney malformations (DKMs). To understand their pathobiology, we generated heterozygous HNF1B mutant kidney organoids from CRISPR-Cas9 gene-edited human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) reprogrammed from a family with HNF1B-associated DKMs. Mutant organoids contained enlarged malformed tubules displaying deregulated cell turnover. Numerous genes implicated in Mendelian kidney tubulopathies were downregulated, and mutant tubules resisted the cyclic AMP (cAMP)-mediated dilatation seen in controls. Bulk and single-cell RNA sequencing (scRNA-seq) analyses indicated abnormal Wingless/Integrated (WNT), calcium, and glutamatergic pathways, the latter hitherto unstudied in developing kidneys. Glutamate ionotropic receptor kainate type subunit 3 (GRIK3) was upregulated in malformed mutant nephron tubules and prominent in HNF1B mutant fetal human dysplastic kidney epithelia. These results reveal morphological, molecular, and physiological roles for HNF1B in human kidney tubule differentiation and morphogenesis illuminating the developmental origin of mutant-HNF1B-causing kidney disease.
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Fator 1-beta Nuclear de Hepatócito , Células-Tronco Pluripotentes Induzidas , Organoides , Humanos , Fator 1-beta Nuclear de Hepatócito/genética , Fator 1-beta Nuclear de Hepatócito/metabolismo , Organoides/metabolismo , Células-Tronco Pluripotentes Induzidas/metabolismo , Diferenciação Celular/genética , Heterozigoto , Túbulos Renais/patologia , Túbulos Renais/metabolismo , Mutação , Rim/patologia , Rim/metabolismo , Rim/anormalidades , Sistemas CRISPR-Cas , Células-Tronco Pluripotentes/metabolismo , Edição de GenesRESUMO
BACKGROUND: Concomitant invasive ovarian mucinous adenocarcinoma, unilateral renal agenesis and bicornuate uterus is a rare combination. Unilateral renal agenesis has been associated with genital anomalies, such as unicornuate and bicornuate uterus. Furthermore, a wealth of studies has reported the association between unicornuate uterus and ovarian anomalies, such as the absence of an ovary or ectopic ovaries, but rarely has there been a combination of the three to the best of our knowledge. The present case report is the first case presentation with a combination of the three syndromes: ovarian mucinous tumor, unilateral renal agenesis, and bicornuate uterus. CASE PRESENTATION: We report the case of a 17-year-old who presented with abdominal distension. On examination, a CT scan revealed a large multicystic abdominal mass on the right side, with an absence of the right kidney while the left kidney was normal in size, appearance, and position. Intraoperatively, massive blood-stained ascitic fluid was evacuated. Additionally, a large whitish polycystic intra-abdominal mass with mucus-like materials and solid areas was attached to the midpoint of the colon and the right ovary, with visible metastasis to the omentum. The uterus was bicornuate. The mass and omentum were taken for histopathology and a diagnosis of invasive ovarian mucinous cystadenocarcinoma with metastasis to the colon and omentum was made after a pathological report. CONCLUSIONS: The presence of these conditions in the same individual could potentially complicate medical management and fertility considerations. Thus, a need for a multidisciplinary medical team, including gynecologists, urologists, and oncologists, to address their unique needs and provide appropriate treatment and guidance. Further research and case studies are needed to better understand the possible association and implications of these rare co-occurring conditions.
Assuntos
Adenocarcinoma Mucinoso , Útero Bicorno , Neoplasias Ovarianas , Útero , Adolescente , Feminino , Humanos , Adenocarcinoma Mucinoso/complicações , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia , Útero Bicorno/complicações , Anormalidades Congênitas , Rim/anormalidades , Rim/patologia , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/patologia , Rim Único/complicações , Tomografia Computadorizada por Raios X , Útero/anormalidades , Útero/patologiaRESUMO
Objective: To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies. Methods: A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed. Results: A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common. Conclusions: Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.
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Anormalidades Múltiplas , Ductos Paramesonéfricos , Anormalidades Urogenitais , Útero , Vagina , Humanos , Feminino , Estudos Retrospectivos , Anormalidades Urogenitais/epidemiologia , Útero/anormalidades , Vagina/anormalidades , Ductos Paramesonéfricos/anormalidades , Incidência , Anormalidades Múltiplas/epidemiologia , Transtornos 46, XX do Desenvolvimento Sexual/epidemiologia , Rim/anormalidades , Colo do Útero/anormalidades , Colo do Útero/patologia , Genitália Feminina/anormalidades , China/epidemiologia , Anormalidades Congênitas/epidemiologia , AdultoRESUMO
Filippi syndrome is a rare genetic disorder characterized by growth and neurodevelopmental delays, dysmorphism, and selective limb abnormalities. Although the syndrome was described approximately four decades ago, only a few families with molecularly confirmed diagnoses have been reported. In this article, we present three new patients of Filippi syndrome with unusual clinical and genetic aspects. These patients exhibited novel clinical features that have not previously been associated with Filippi syndrome, including renal hypoplasia/aplasia, renal cysts, renal cortical thinning, hypomelanotic, and hypermelanotic macules. All three patients had homozygous frameshift variants of the CKAP2L gene, specifically NM_152515.3: c.554_555del, c.981_982del, and c.1463_1467del, with the second being a novel variant. Given the limited number of reported Filippi syndrome patients to date and the ongoing discovery of new clinical aspects of the disease, exploring its potential connection with kidney and skin pigmentation abnormalities could be valuable for future research.