Renal Anomalies Research Articles

It’s More Complicated Than Interpreter Use: Improving Care for Non–English-Speaking Families

Mateo is a 2-week-old male who presented for evaluation of neonatal fever and whose parents speak Spanish. Workup revealed pyelonephritis, underlying renal anomalies, and vesicoureteral reflux. A complex interplay of individual and contextual factors contributed to Mateo not receiving prophylactic antibiotics, which ultimately led to a potentially preventable subsequent admission for sepsis secondary to Escherichia coli pyelonephritis with bacteremia. Further history revealed additional communication breakdown; despite multiple appointments between hospitalizations, systems issues led to Mateo’s primary care provider being unaware of Mateo’s admissions or urologic diagnoses. This case demonstrates challenges facing health care providers as we strive to provide equitable care to families speaking languages other than English (LOE). Although an in-person interpreter was used throughout Mateo’s hospitalization, there were still key areas of communication breakdown and opportunities for improvement. First, we describe characteristics of the growing population speaking LOE in the United States and discuss qualitative and quantitative disparities in health care encounters for this population. Through Mateo’s experience, we highlight the transition of care at discharge as being highly vulnerable to communication breakdown, particularly for patients speaking LOE, and emphasize the additional impact of low health literacy on these challenges. Finally, we outline potential strategies to reduce disparities and improve outcomes for pediatric patients and families speaking LOE, focusing on (1) consistent and evidence-based interpreter use, (2) incorporation of health literacy–informed communication strategies in the discharge process, (3) reducing barriers to follow-up appointments or diagnostic testing, and (4) closed-loop communication with the patient’s primary care provider.

Rare Cause of Pediatric Abdominal Pain Diagnosed on Point of Care Ultrasound (POCUS)

An 11-year-old postmenarchal female presented to the pediatric emergency department (ED) with 2 days of periumbilical and right lower abdominal pain. Radiology-performed ultrasound (RADUS) did not visualize the appendix, and there was a plan for surgical consultation to decide between serial abdominal exams versus computed tomography (CT) scan. While awaiting consultation and to help further narrow the differential diagnosis, the emergency provider performed a point of care ultrasound (POCUS) of the urinary tract. This revealed several anomalies including a solitary left kidney with hydronephrosis, and a well-circumscribed, fluid-filled structure with mixed echogenicity posterior to the bladder and inferior to the uterus. Given these findings on POCUS, further imaging was pursued, including a RADUS of the pelvis followed by a magnetic resonance imaging (MRI) of the abdomen. Further imaging ultimately diagnosed a bicornuate uterus, septate vagina with hematocolpos and solitary left kidney consistent with Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) syndrome. This case is an illustration of how POCUS is an invaluable tool to narrow the differential diagnosis and guide advanced imaging or consultation for both common and rare causes of pediatric abdominal pain.

Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.

Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in 26 BBS genes. It affects multiple organs, including the kidney and liver, with varying degrees regarding extent and time of first manifestation. Structural renal anomalies are an early feature and end-stage kidney disease (ESKD) cumulates to 25% in adulthood. Early-onset hyperphagia-associated obesity is another major symptom and contributes to liver pathology, presenting as steatosis/fibrosis. Aim of this study is the evaluation of high-end ultrasound (US) technologies in BBS patients regarding their potential to discriminate liver and kidney tissue pathology at an early stage. Patients with genetically proven BBS were recruited from the University Children's Hospital of Essen and from BBS patient days hosted in Germany. Acute illness was an exclusion criterion. Clinical and laboratory data were extracted from patients' digital records or medical letters. High-resolution ultrasound (US) imaging was utilized, including attenuation imaging (ATI), shear wave elastography (SWE) and dispersion (SWD) of liver tissue. 49 BBS patients (24/49 male; 1.1-51.0years, mean 17.8years) were included in the study. Mean body weight (SDS 2.13 ± 1.33) and BMI (SDS 2.64 ± 1.18) were increased. Structural kidney abnormalities (dysplasia, cysts) were present in 75% (36/48), and persistent fetal lobulation in 44% (21/48). Renal function was impaired in 27% (13/49) of whom 3 had ESKD (kidney transplantation (n = 2), hemodialysis (n = 1)). Elevation of liver enzymes was detected in 38% (16/42). In 51% (25/49) ATI of liver tissue was increased, indicating hepatic steatosis, and correlated with BMI SDS, liver size, and enzymes. SWE was elevated in 61% (30/49), suggesting hepatic fibrosis, and it correlated with BMI and GGT. Patients with pathogenic variants in BBS10 showed a tendency towards higher ATI, reduced GFR, and higher BMI SDS. We detected kidney and liver abnormalities in a higher percentage of BBS patients than previously reported, indicating a high sensitivity and diagnostic yield of the evaluated high-end US applications. ATI detected liver pathology early (partially prior to liver enzymes) and revealed differences related to the affected genes. Evidence of tissue pathology at an early stage may improve diagnostics and the evaluation of therapeutic approaches.

11576 Robotic Hysterectomy and Vaginal Septum Excision in a Patient with Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome

11576 Robotic Hysterectomy and Vaginal Septum Excision in a Patient with Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome

Factors Associated with Postoperative Complications After Congenital Duodenal Obstruction Surgery: A Retrospective Study.

Background and Objectives: Duodenal atresia and stenosis are common causes of intestinal obstruction. Associated anomalies significantly influence early postoperative mortality, while postoperative complications impact long-term survival. Materials and Methods: Over a 13-year period from January 2010 to August 2023, a total of 74 infants and children with congenital duodenal obstruction were treated at "Grigore Alexandrescu" Children's Emergency Hospital and met the inclusion criteria. All patients diagnosed with duodenal obstruction (both instrinsic and extrinsic causes) were included. Analysed data included congenital anomalies, Apgar scores, birth weights, surgical techniques, and complications. Results: The associated anomalies included cardiac (n = 33), Down syndrome (n = 13), neurological (n = 11), pulmonary (n = 7), renal (n = 4), skeletal (n = 1), and gastrointestinal and hepatobiliopancreatic anomalies (n = 25). In total, 12 patients experienced perioperative ventilation problems. Early postoperative complications (within 30 days) occurred in 21 patients, while 6 had late postoperative complications (after 30 days). Among non-surgical complications, we noted ventilation problems, sepsis (n = 7), and pneumothorax (n = 1). Surgical complications included adhesive bowel obstruction (n = 7), incisional hernia (n = 3), peritonitis (n = 3), dysfunctional duodenoduodenostomy or duodenojejunostomy (n = 3), pneumoperitoneum (n = 5), enteric fistula (n = 3), and volvulus (n = 4). Conclusions: Surprisingly, this retrospective study revealed that an Apgar score below 8, along with neurological and pulmonary abnormalities, is associated with postoperative complications. Conversely, other congenital anomalies, low birth weight, and age at admission do not serve as prognostic factors.

Extra-cerebral recombination activity of Emx1-Cre and nestin-Cre in the kidney.

Individuals with neurodevelopmental disorders (NDDs) are frequently diagnosed with comorbidities in other organs, indicating that NDD risk genes may have extra-cerebral functions. The engineered mouse models are pivotal in understanding the functions of candidate NDD genes. Here, we report that Emx1-Cre and nestin-Cre mouse strains, the popular tools to study brain development, also exhibit recombination activity in the kidney. We find that both Emx1-Cre and nestin-Cre can drive recombination in epithelial cells lining proximal and distal convoluted tubules of the nephron. Additionally, nestin-Cre drives recombination in the glomerulus of the nephron. Furthermore, we use Emx1-Cre and nestin-Cre to knock out Larp7, a gene linked to a human NDD called Alazami syndrome. We find that Larp7 knockout using nestin-Cre, but not Emx1-Cre, results in elevated blood urea nitrogen. This result suggests a compromised kidney function, reminiscent of recently revealed renal anomalies in Alazami syndrome patients. Many genes have been knocked out using Emx1-Cre and nestin-Cre to study their roles during embryonic neurogenesis. It will be of great interest to reinvestigate whether the renal development and function is affected in these existing mouse models.

Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.

To study the clinical and genotypic spectrum of patients with HNF-1ß deletions (MODY 5) at a tertiary care hospital. This study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other similar forms of monogenic diabetes, was done. Dosage analysis of HNF 1B by Multiplex Ligand-dependent Probe Amplification (MLPA) was performed. The mean age of patients was 22.25 years with a male-to-female ratio of 3:1. Associated phenotypic features included neurodevelopmental disorder in all four patients, insulin resistance in two patients (2/4) and alopecia in three patients (3/4). One patient had clinical and biochemical hyperandrogenism. All patients had renal malformations, and one patient had a Mullerian anomaly. Family history was present in 1 patient. All patients had pancreatic abnormalities, the most common type being dorsal agenesis of the pancreas (3/4), followed by annular pancreas (1/4). All patients had a genetic deletion of the gene HNF1B on chromosome 17 with a deletion interval of (?_37686431)_(37745059_?), (?_37687281)-(37744884_?), comprising exons 1 to 9. It is imperative to maintain a high index of suspicion for MODY 5 in patients presenting with renal anomalies and diabetes, even in the absence of a family history. Early identification allows for screening family members and ensures a comprehensive approach to identifying and managing other abnormalities in these patients.

Prenatal diagnosis and genetic analysis of two fetuses with Wolf-Hirschhorn syndrome

To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS). A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People's Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by the Qingyuan People's Hospital (Ethics No. IRB-2022-064). Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46,XN,der(4)t(4;8)(p16.1;p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46,XN,der(4)t(4;9)(p15.3;p24)pat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

Hydronephrosis in a Sigmoid Supernumerary Kidney

Supernumerary kidneys are a rare developmental anomaly, often discovered incidentally or during the investigation of complications such as infections or obstructive uropathy. This case report presents a 70-year-old male patient with a sigmoid supernumerary kidney complicated by hydronephrosis and a staghorn calculus. The patient, with a history of poorly controlled hypertension and type 2 diabetes mellitus, was admitted for febrile left lumbar pain and hemodynamic instability. Diagnostic imaging, including renal ultrasound and uro-CT, revealed a major hydronephrosis in the supernumerary kidney caused by an obstructive staghorn calculus, along with signs of advanced local infection and inflammation. This report highlights the critical role of imaging modalities, particularly uro-CT, in diagnosing renal anomalies and planning treatment. We also review the literature on the management of supernumerary kidneys, emphasizing the importance of early detection and appropriate therapeutic intervention to prevent further complications such as renal insufficiency and infection.

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with utero-vaginal aplasia is the most severe form of the Müllerian duct anomalies and can be associated with extra-genital abnormalities such as renal or skeletal anomalies, hearing loss, or cardiac defects. The past two decades have witnessed significant advances both in understanding the etiologies of MRKH and in the development of fertility treatments such as uterine transplantation. The present work aimed to determine the rate of women with MRKH syndrome who underwent optimal initial management (after comprehensive malformation assessment) and to establish the rate of patients eligible for uterine transplantation (i.e., those with a vaginal length ≥7 cm without reconstruction using a bowel segment, and an anti-Müllerian hormone level >1.5 ng/mL before 35 years). Cohort study of 85 women with MRKH syndrome consulting in our tertiary center. 62.4% of women with MRKH syndrome had an exhaustive malformative evaluation according to the French guidelines (Protocole National de Diagnostic et de Soin [PNDS]), of which 76.5% had associated malformations (MRKH type II). Pedigree, when available, showed a family history of infertility or a urogenital tract spectrum anomaly in 60% of cases. Concerning the uterine transplantation selection criteria, when evaluated, 22.6% of women had an anti-Müllerian hormone level <1.5 ng/mL and 36% a vaginal length <7 cm. On the 21 women with complete evaluation of both primary and secondary outcomes, 14 of them would be eligible for a uterine transplantation program at the time of consultation according to the main inclusion criteria of uterine transplantation program. Women with MRKH syndrome are often inadequately explored for associated malformations. Early assessment and monitoring of the ovarian reserve is key for fertility preservation, especially in the era of uterine transplantation.

Risks of Renal Anomalies and Urinary Tract Infections in Neonates With Single Umbilical Artery.

Background Our study aims to evaluate the characteristics of congenital anomalies of kidneys and urinary tracts (CAKUT) and urinary tract infection (UTI) in babies with single umbilical artery (SUA) and to identify factors associated with these outcomes. Methods We performed a 15-year retrospective analysis on babies who were born ≥34 weeks with SUA between 2006 and 2020. Relevant clinical information on obstetrics and neonatal examinations, UTIs, and imaging of the urinary systems was evaluated. Results The frequency of SUA in newborns was 3.28 per 1,000 deliveries. The majority (271/291; 93.1%) of patients had kidney ultrasound, and 19 (7.0%) had CAKUT. Hydronephrosis (n = 11, 57.9%) was the commonest CAKUT, followed by unilateral kidney agenesis (n = 3, 15.8%), horseshoe kidney (n = 2, 10.5%), and right low-lying kidney (n = 2, 10.5%). Most significant CAKUT (including solitary kidney and urinary tract obstruction) could be detected during the antenatal period. Congenital heart defect (OR 4.93, 95% CI 1.59-15.34), limbs (OR 9.77, 95% CI 1.53-62.44), and sacral abnormalities (OR 5.06, 95% CI 1.25-20.55) were associated with CAKUT. Six (2.1%) developed UTIs during the study period, with the majority below two years old. The presence of CAKUT was associated with the development of UTI after adjustment (adjusted HR 10.28, 95% CI 1.86-56.83). Conclusions The overall prevalence of CAKUT was 7.0% in patients with SUA, and the majority of significant CAKUT was identified during the antenatal period. Congenital heart defects, limbs, and sacral abnormalities were associated with CAKUT. UTI occurred in 2.1% of patients.

A STUDY ON MATERNAL AND FETAL OUTCOME IN OLIGOHYDRAMNIOS

Background: Amniotic fluid provides a protected milieu for growing fetus, cushioning the fetus against mechanical and biological injury. It also supplies nutrients and facilitates growth and movement.Oligohydramnios is defined as Amniotic fluid index (AFI) less than 5 cm, or deep vertical pocket &lt; 21. It occurs in 1–5% pregnancies at term, with the incidence increasing in postdate pregnancies to 11%.2 Maternal conditions associated with decreased AFV ( amniotic fluid volume)include post-dated pregnancy, preterm premature rupture of membranes (PPROM), hypertension, autoimmune disorders and maternal medication like prostaglandin synthetase inhibitors. Fetal factors: Which influence AFV are essentially related to fetal growth (intrauterine growth restriction) and fetal anomalies, particularly of the renal tract. The most commonly associated renal anomalies with oligohydramnios include bilateral renal agenesis, multicystic dysplastic kidneys, bladder outlet obstruction and infantile polycystic kidney disease.The aim of this study is to evaluate the etiological risk factors of oligohydramnios and to know the clinical significance and mode of delivery and maternal and perinatal outcome. Methods: This was a retrospective study conducted on 100 cases in Basaveshwar Medical and Teaching Hospital attached to MahadevappaRampure Medical college, Kalaburagi from 1-8-2023 to 1-6-2024.All cases coming to Basaveshwar medical and teaching hospital with oligohydramnios were included in the study after fulfilling inclusion and exclusion criteria Results: Of the 100 cases in the present study,40 cases were in 25-30 years accounting for 40% of cases with maximum number of cases in this age group.56 cases were primigravida accounting for 56% of cases with majority of cases being primigravida and 44 cases were multigravida accounting for 44% of cases.The number of cases with preterm rupture of membranes were 21 ( 21%), cases with Intra uterine growth restriction were 15 (15%). 6 cases (6%) had congenital anamolies. The number of cases withpost dated pregnancy were 22 (22%), Pregnancy induced hypertension cases were 28 (28%). Cases with autoimmune diseases were 1 (1%) and 7 cases (7%) were idiopathic.The most important cause for oligohydramnios was pregnancy induced hypertension and post-dated pregnancy. 13 of the cases had spontaneous onset of labouri.e 13% cases, 28 cases (28%) were induced and 59 cases underwent cesarean section accounting for 59% of all cases.In the present study, total of 19 cases underwent cesarean section because of fetal distress accounting for 19% of cases with the most common indication for cesarean section.11 cases (11%) underwent LSCS due to IUGR, ,4 cases (4%) underwent cesarean section because of non-progression of labour, 2 cases(2%) underwent LSCS because of malpresentation/malposition, 9 cases (9%) had cephalopelvic disproportion, 2 cases (2%) refused for induction of labour and 12 cases (12%) were previous LSCS.Among the 100 cases studied ,there were 8 cases (8%) with meconium aspiration syndrome, 5 cases (5%) had respiratory distress, 6 cases (6%) had low birth weight, 6 cases (6%) with congenital anomalies, 21 cases (21%)had NICU admissions, 4 cases (4%) were still born and 2 cases(2%) had intrauterine fetal death Conclusion: Oligohydramnios is associated with fetal distress, meconium aspiration syndrome ,respiratory distress syndrome ,increased NICU admissions, low birth weight, perinatal mortality, morbidity and increased maternal morbidity due to increased cesarean section rates.Oligohydramnios requires intense fetal monitoring with proper antenatal and intrapartum care.Hence, AFI can be used as a primary tool in fetal surveillance in antenatal and intrapartum period and can help in categorization of fetus into high risk and low risk .One can have favourable outcome with good antenatal and intrapartum care

A Literature Review: Radiological Computed Tomography Assessment for Congenital Renal Anomalies

A Literature Review: Radiological Computed Tomography Assessment for Congenital Renal Anomalies

External ear malformations and cardiac and renal anomalies: A systematic review and meta-analysis.

External Ear Malformations (EEM) continue to be a common malformation seen in the pediatric patient population. This study aims to further elucidate the correlation between EEM and cardiac and renal anomalies. A systematic review and meta-analysis to study the incidence of cardiac and renal anomalies associated with syndromic and isolated (EEM). The literature search spanned multiple databases, including Google Scholar, PubMed, Scopus, Web of Science, and MEDLINE. Studies must be focused on EEM and cardiac and/or renal anomalies. Only articles written in English were included. General study characteristics, number of EEM patients, number of cardiac and renal anomalies and whether cases were syndromic were extracted from the studies. Of 1,058 initial studies, 33 were included for meta-analyses. Mean JBI score for all included studies was 92.06%, indicating acceptable study quality. Interrater reliability was high, with a Cohen kappa score for all studies of 0.94. The resulting pooled prevalence of cardiac abnormalities was 20% [95% CI:13-28%], while renal abnormalities were 13% [95% CI: 7-20%]. The most common anomalies were VSD (3.725%) and renal agenesis (2.04%). The presence of syndrome data across studies was not a significant modifier of prevalence rates. Primary limitation is due to heterogeneity in individual study methodology and reporting standards. These results highlight a higher prevalence of cardiac-related conditions than renal anomalies in patients with both syndromic and non-syndromic EEM in the included studies, underscoring the need for thorough clinical evaluations.

Epidermolysis Bullosa with Pyloric Atresia in a Premature Infant

Introduction: Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare subtype of the broader bullous disorder known as epidermolysis bullosa resulting from mutations in basal keratinocyte proteins, most notably plectin or α6β4 integrin. Objective: Our case aims to highlight both the cutaneous and extracutaneous manifestations of this entity that lead to a diagnosis and guide management. Case: We report a case of EB-PA in a newborn born with skin fragility and respiratory distress, later found to have mutations in both PLEC genes on chromosome 8. In addition to forming bullae and erosions requiring diligent wound care, she developed pyloric atresia and hypoxia from respiratory secretions necessitating a pyloromyotomy and proximal duodenal resection, tracheostomy tube, gastrostomy tube, and antibiotics for intermittent sepsis. Conclusion: EB-PA is characterized by instability in all plectin-containing tissues, particularly the skin, but the prevalence of plectin throughout the body can lead to wide-ranging and serious complications, including gastrointestinal and tracheoesophageal strictures, protein-losing enteropathy, and renal anomalies. EB is readily recognizable clinically when presenting with classic bullae but given the serious nature of the extracutaneous manifestations of EB-PA, prompt diagnosis with genetic testing and surveillance for systemic involvement is essential to promote comfort and survival in this potentially fatal neonatal disease.

A rare case report of urogenital anomaly in a teenage girl: Herlyn–Werner–Wunderlich syndrome/OHVIRA syndrome (Obstructed Hemivagina and Ipsilateral Renal Anomaly)

BackgroundHerlyn–Werner–Wunderlich syndrome also known as OHVIRA syndrome is a rare complex congenital developmental anomaly characterized by the triad of uterine didelphys, obstructed hemivagina causing hematometrocolpos and ipsilateral renal anomaly.Case presentationHere we report a case of a 14-year-old girl who presented with acute onset lower abdominal pain. Ultrasound and magnetic resonance imaging showed uterus didelphys, hematometrocolpos, obstructed hemivagina and right renal agenesis. Patient underwent hematocolpos drainage.ConclusionsOHVIRA syndrome is an uncommon congenital anomaly. Imaging plays a major role in diagnosis. Surgery is the treatment of choice to resect the septum and relieve the obstruction. An early correct diagnosis is the goal to relieve the symptoms and prevent complications, caused by retrograde menstruation which may result in endometriosis and, also, preserve sexual and conception abilities.

Evaluating iron replacement therapies in pediatric CKD: A comparative analysis of oral liposomal iron, iron supported lactoferrin and IV iron Dextran

CKD is defined as longstanding kidney damage and reduction in renal function. The global burden of CKD in the pediatric population is 15 per million, with congenital renal anomalies and hereditary disorders being the primary causes. Of these, 10% of patients require RRT. The development of anemia in chronic disease is a significant concern as the disease progresses. This condition exacerbates the pathological state by increasing the risk of infection, inevitably resulting in mortality. The study aims to establish the comparative analysis of three types of iron replacement therapies including oral liposomal iron, iron supported lactoferrin and IV iron dextran by evaluating their safety and efficacy corresponding to the different stages of CKD in pediatric population. A comparison between all three variants of iron replacement therapy shows oral liposomal iron provides higher bioavailability and tolerance but effective only in lower CKD stages. In IV iron dextran, rapid iron store replenishment has been observed, but with significant side effects, including the risk of severe hypersensitivity reaction. Conversely, oral iron-supported lactoferrin has demonstrated a maximal iron recovery response after six months of therapy, but with frequent gastrointestinal side effects.

Horseshoe kidney with teratoid type of Wilms tumor: a rare case report

BackgroundHorseshoe kidney is the most common renal fusion anomaly, and Wilms tumor is the most frequent renal malignancy in children. The occurrence of Wilms tumor in association with horseshoe kidney is a scarce anomaly. However, the arising of a teratoid type, which is a rare variant of Wilms tumor in a horseshoe kidney, is exceptionally unique.Case presentationThis report presents a 5-year-old male admitted with horseshoe kidney involved by a large heterogeneous calcified mass that was diagnose on biopsy as Wilms tumor blastemal dominant. According to the local and regional extension and metastatic tumor in the lungs, the patient underwent neoadjuvant chemotherapy and then surgery. Post-operative pathologic findings confirmed the diagnosis of teratoid Wilms tumor.ConclusionsThe occurrence of renal anomalies associated with a malignancy might be more frequent in the clinical environment. There are numerous differential diagnoses for renal tumors and masses, but the possibility of exceptional anomalies should not be denied, and clinicians should be prepared for these occasions. Although studies propose that chemotherapy has a trivial effect on teratoid Wilms tumors, it is essential to evaluate the tumor for any possibility of regression in non-teratoid regions before proceeding to upfront tumoral resection.

A Child Carrying a Large Deletion in the 10p.15.3-p12.31 Region

Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft lip, congenital exotropia, laryngomalacia, atrial septal defect, and sensorineural hearing loss. 46, XX, del (10p→ter) was observed on the G-banded analysis. A chromosomal microarray was performed to obtain more detail on the deletion size and gene involvement that might be related to the clinical phenotypes, medical problems, and management. The deletion involved the region of 10p15.3–p12.31, with an approximate size of 19.528739 Mb. The size of deletion could determine the variability in phenotypes, and microarray is necessary to comprehend the deletion size and gene involvement better.

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were found in 22 individuals, with missense (26.1%), nonsense (21.7%), and frameshift (17.4%) variants being the most prevalent. One patient had a KMT2D variant of uncertain significance. The most common clinical characteristics included distinct facial features (100%), intellectual disability (100%), developmental delay (95.7%), speech delay (78.3%), hypotonia (69.6%), congenital heart abnormalities (69.6%), and recurrent infections (65.2%). Other abnormalities included hearing loss (39.1%), seizures (26.1%), cleft palate (26.1%), and renal anomalies (21.7%). This study broadens the mutational and phenotypic spectrum of KS in the Taiwanese population, highlighting the importance of comprehensive genetic testing and multidisciplinary clinical evaluations for diagnosis and treatment.