Renal Anomalies Research Articles

A Thorough Review of Mutral Herbs

In the present era, the cases of renal diseases are speedily growing and relapses of these diseases are also very frequent. Diuretics in contemporary science, play a major role in the treatment of renal anomalies, but they have side effects too. So, to combat the situation, Ayurvedic Mutral drugs are gaining wide acceptance as they are safe and effective. In Ayurveda, great importance has been given to Mutra and Mutravaha srotas in maintaining the health of an individual. This can be illustrated by the fact that to deal with urinary disorders, Acharya Charak has specifically mentioned the Mutravirechaniya Mahakashaya and Acharya Sushruta and Acharya Vagbhata have mentioned Veertarvadigana and Trinapanchmoolagana. The herbs of the above-mentioned Kashaya and Gana are used to treat various renal ailments like burning micturition, scanty urine, calculi, etc. Apart from this, they also help to re-establish the normal physiological function of the affected renal tissues and organs. Hence, due to these attributes, they are the components of a wide number of Ayurvedic Mutral formulations. The current review is undertaken for screening the therapeutic action on the renal system of a total twelve herbs, taken from Mutravirechaniya Mahakashaya, Veertarvadigana and Trinapanchmoola gana. Various research studies concerning property of increasing urinary output (Mutral) of such plants are compiled here. These drugs are mostly sheet virya and snigdha guna, so increase the watery content of urine, thereby increasing its amount and flow.

Addressing the delayed diagnosis of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome for improved women health in Africa: A case series

Background: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome, a rare urogenital anomaly, presents significant challenges to young girls and women in Africa. As we strive to break barriers and reposition Africa in the global health architecture, the timely recognition and management of OHVIRA becomes crucial. Usingt a retrospective case series approach, we examined OHVIRA cases managed by the Pediatric and Adolescent Gynecology Unit at a Tertiary Health facility in Malaysia, between June and November 2022. The study findings have relevance for Africa because the challenges faced by young girls and women in obtaining adequate healthcare are not confined by borders.
 Results: The age range of presentation, 11-25 years, mirrors the age group of concern for the African population. The time interval between symptom onset and diagnosis, spanning from 1 to 12 years, raises concerns about delayed identification. We observed that worsening dysmenorrhea, often unresponsive to analgesia, was the main presenting symptom, accompanied by complications, such as persistent vaginal discharge (12.5%), urinary retention (25%), constipation (12.5%), and pelvic masses (37.5%), which resonate with potential cases in Africa.
 Conclusion: The delayed diagnosis of OHVIRA syndrome emphasizes the pressing need for proactive healthcare interventions, particularly among young girls and women in Africa. By understanding the parallels between our study and the challenges faced by young women on the continent, we can identify opportunities to improve healthcare access and address the barriers that hinder timely diagnosis and management.

A Case of Auricle Deformity With 2nd Branchial Cleft Anomaly in Patient With Branchio-Otic Syndrome

Branchio-oto-renal (BOR) Syndrome is a rare autosomal dominant genetic disorder characterized by features such as branchial arch anomalies, hearing loss, preauricular fistula, auricular malformations, and renal abnormalities. Also, BOR syndrome without renal anomalies is referred to as branchio-otic syndrome. In this report, we present a case of a 50-year-old female patient with bilateral type 2 branchial arch anomalies, both preauricular fistula, bilateral inner ear malformations, bilateral sensorineural hearing loss, and right auricular malformation. The patient underwent surgical treatment. This report is the first documentation in Korea of auricular malformation in BOR syndrome, where the patient’s family exhibited a typical autosomal dominant inheritance pattern.

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common blood vessel emerging from the right and left ventricles instead of the main pulmonary artery and aorta. TA accounts for 4% of all critical congenital heart diseases. The most common cause of TA is 22q11.2 deletion syndrome, accounting for 12–35% of all TA cases. However, no major causes of TA other than 22q11.2 deletion have been reported. We performed whole-genome sequencing of 11 Japanese patients having TA without 22q11.2 deletion. Among five patients, we identified pathogenic variants in TMEM260; the biallelic loss-of-function variants of which have recently been associated with structural heart defects and renal anomalies syndrome (SHDRA). In one patient, we identified a de novo pathogenic variant in GATA6, and in another patient, we identified a de novo probably pathogenic variant in NOTCH1. Notably, we identified a prevalent variant in TMEM260 (ENST00000261556.6), c.1617del (p.Trp539Cysfs*9), in 8/22 alleles among the 11 patients. The c.1617del variant was estimated to occur approximately 23 kiloyears ago. Based on the allele frequency of the c.1617del variant in the Japanese population (0.36%), approximately 26% of Japanese patients afflicted with TA could harbor homozygous c.1617del variants. This study highlights TMEM260, especially c.1617del, as a major genetic cause of TA in the Japanese population.

A review of robotic-assisted laparoscopic partial nephrectomy in the management of renal duplication anomalies.

Open and purely laparoscopic partial nephrectomy or heminephrectomy has been the standard management for renal duplication anomalies for symptomatic children with non-functional renal moieties. While robotic-assisted laparoscopic partial nephrectomy (RALPN) has been established as a safe and feasible option for the management of renal duplex anomalies, there remains a paucity of data on this topic. The aim of this study is to comprehensively review all available outcomes data and update the use of emerging technologies in robotic surgery which continue to make RALPN a viable and advantageous option in the management of renal duplex anomalies.

High-grade Vesicoureteral Reflux in Patients With Anorectal Malformation From the ARM-Net Registry: Is Our Screening Sufficient?

BackgroundVesico-ureteral reflux (VUR) is a common associated urological anomaly in anorectal malformation (ARM)-patients. High-grade VUR requires antibiotic prophylaxis to prevent urinary tract infections (UTI's), renal scarring and -failure. The exact prevalence of high-grade VUR in ARM patients is unknown. Hence, the aim of this study was determining the incidence of high-grade VUR in ARM-patients, and its associated risk factors. MethodsA multicenter retrospective cohort study was performed using the ARM-Net registry, including data from 34 centers. Patient characteristics, screening for and presence of renal anomalies and VUR, sacral and spinal anomalies, and sacral ratio were registered. Phenotypes of ARM were grouped according to their complexity in complex and less complex. Multivariable analyses were performed to detect independent risk factors for high-grade (grade III-V) VUR. ResultsThis study included 2502 patients (50 % female). Renal screening was performed in 2250 patients (90 %), of whom 648 (29 %) had a renal anomaly documented. VUR-screening was performed in 789 patients (32 %), establishing high-grade VUR in 150 (19 %). In patients with a normal renal screening, high-grade VUR was still present in 10 % of patients. Independent risk factors for presence of high-grade VUR were a complex ARM (OR 2.6, 95 %CI 1.6–4.3), and any renal anomaly (OR 3.3, 95 %CI 2.1–5.3). ConclusionsAlthough renal screening is performed in the vast majority of patients, only 32 % underwent VUR-screening. Complex ARM and any renal anomaly were independent risk factors for high-grade VUR. Remarkably, 10 % had high-grade VUR despite normal renal screening. Therefore, VUR-screening seems indicated in all ARM patients regardless of renal screening results, to prevent sequelae such as UTI's, renal scarring and ultimately renal failure. Type of StudyObservational Cohort-Study. Level of EvidenceIII.

P-51 Association of Bardet-Biedl syndrome with differences of sex development and pituitary hypoplasia

Abstract Introduction Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder involving hypogonadism manifested by cryptorchidism, micropenis and/or delayed puberty Clinical Case We report the case of a 13-year-old child, who was consulted for obesity and whose physical examination showed major signs of SBB: global obesity, polydactyly, learning difficulties and visual disorders. Genital examination revealed a 1 cm genital tubercle with a single orifice and two genital swelling without palpable gonads. Biological investigations revealed hypogonadotropic hypogonadism, corticotropic insufficiency, low AMH with a non- stimulable HCG test and a 46XY male karyotype. Pelvic MRI did not show any gonads or internal genitalia but noted ectopy and malrotation of the right kidney. The diagnosis of a testicular regression syndrome is very likely in this case. At the fundus photography: presence of bilateral retinal dystrophy with high myopia. At the hypothalamohypophyseal level: a strong pituitary hypoplasia was objectified. Conclusion BBS is a rare autosomal recessive multisystem ciliopathy. The incidence of BBS is 1 in 150,000–160,000 in Europe and North America. BBS is caused by a dysfunction of the gene coding for proteins that are implicated in the function of the primary cilia and in important signaling pathways. The core features of the syndrome include retinal degeneration, obesity, polydactyly, cognitive impairment, renal anomalies and urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved in the molecular basis of this rare ciliopathy. To our knowledge, only one study conducted on 11 children with BBS found among them 7 cases of pituitary abnormalities, 4 of which showed hypoplasia. While no association with a testicular regression syndrome has been described. This makes our patient the first described association of these 3 pathologies.

Müllerian anomalies in girls with congenital solitary kidney

BackgroundThe prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK.MethodsA retrospective review was performed of patients within the Nationwide Children’s Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review. Patients with complex urogenital pathology were excluded. Renal anomaly, MA, reason for and type of pelvic evaluation, and age of diagnosis of anomalies were evaluated.ResultsCongenital SFK occurred in 431 girls due to URA (209) or MCDK (222). Pelvic evaluation, most commonly by ultrasound for evaluation of abdominal pain or dysmenorrhea, occurred in 115 patients leading to MA diagnosis in 60 instances. Among 221 patients ages 10 years and older, 104 underwent pelvic evaluation and 52 were diagnosed with an MA of which 20 were obstructive. Isolated uterine or combined uterine and vaginal anomalies were the most common MA. MA were five-fold more common in patients with URA compared to MCDK. In 75% of patients, the SFK was diagnosed prior to the MA.ConclusionsThe prevalence of MA in patients with congenital SFK was 24% among those age 10 years or older, and 38% were obstructive. This justifies routine screening pelvic ultrasound in girls with congenital SFK to improve early diagnosis.Graphical abstractA higher resolution version of the Graphical abstract is available as Supplementary information

The genetic etiologies of bilateral renal agenesis.

The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition. A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology. The cases were further categorized as isolated versus non-isolated, describing additional findings reported prenatally, postnatally, and postmortem. Inheritance pattern was also documented when appropriate in addition to the reported timing of diagnosis and sex. We identified six cytogenetic abnormalities and 21 genes responsible for 20 single gene disorders associated with BRA. Five genes have been reported to associate with BRA without other renal anomalies; sixteen others associate with both BRA as well as unilateral renal agenesis. Six clinically recognized syndromes/associations were identified with an unknown underlying genetic etiology. Genetic etiologies of BRA are often phenotypically expressed as other urogenital anomalies as well as complex multi-system syndromes. Multiple genetic etiologies of BRA have been described, including cytogenetic abnormalities and monogenic syndromes. The current era of the utilization of exome and genome-wide sequencing is likely to significantly expand our understanding of the underlying genetic architecture of BRA.

Single Umbilical Artery and Associated Systemic Anomalies in Foetal and Perinatal Autopsy: An Observational Study

Introduction: Single Umbilical Artery (SUA) is a congenital anomaly that can occur either as an isolated finding or in association with other systemic anomalies. Several studies have reported that SUA is linked to dysplastic kidneys, ventricular septal defects, oesophageal atresia, spina bifida, diaphragmatic hernia and cystic hygromas. Therefore, investigating cases of SUA in autopsies is crucial. Aim: To estimate the frequency of SUA in foetal autopsies and determine the association between SUA and other systemic anomalies. Materials and Methods: The present ambispective observational study was conducted in the Department of Pathology, Shri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Dharwad, Karnataka, India, over a 13 year period from January 2009 to December 2021. A total of 63 cases of SUA detected during foetal autopsies were included. Factors such as age, parity and multiple births were collected where available. The hospital-based frequency of SUA was calculated as a percentage. The association between SUA and systemic anomalies was assessed using the Chi-square test. Results: A total of 1338 perinatal autopsies were performed during the study period, with SUA present in 63 (4.70%) cases. The most common associated anomaly was genitourinary defects identified in 16 (25.39%) cases. However, a statistically significant association was observed with musculoskeletal (11.11%), nervous (11.11%), and gastrointestinal system anomalies (19.04%) with a p-value of <0.0001. Conclusion: In the present study, SUA accounted for 4.70% of the foetal autopsies conducted during the study period. The most common associated anomalies were bilateral cystic kidneys, and VATER (Vertebral, Anal, Tracheo-oesophageal, and Renal anomalies) was the most common syndromic associations with SUA.

Vacterl Association with Mayer-Rokitansky-Kuster-Hauser Syndrome, Description of a Case

Vacterl association is a complex dysfunction of congenital malformaciones that implies several structures. Is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. Etiology has only been identified in some patients due to sporadic nature and her high degree of clinical heterogeneity. We report a girl with VACTERL association, which co-occurrence with unusual anomalies of the branchial arch: Mayer-Rokitansky-Küster-Hause syndrome (MRKHS). Vaginal agenesis, is a clinical malformations due to severe dysfunctions in the development of Muller conduits in feminine patient, with absence of vagina and uterus, but with functionals ovaries. Therapeutic management is typically multidisciplinary and centers around surgical correction of specific congenital anomalies in the immediate postnatal period, followed by long-term follow-up for postoperative complications and sequelae of congenital malformations. If optimal surgical correction is achievable, the prognosis may be relatively positive, although some patients will remain affected throughout life. This presentation constitutes a new modality of presentation of polyformative syndromes that need of experience and medical investigation for patients with complex malformation to improve a quality of life.

Emanuel Syndrome with a Distinctive Phenotype: A Case Report and Review with an Indian Perspective

Emanuel Syndrome (ES) is a chromosomal disorder characterised by the presence of an extra copy of chromosome 22, specifically a derivative 22 chromosome, which results from an unbalanced translocation involving chromosomes 11 and 22, due to 3:1 meiotic non disjunction. This leads to the gain of the 11q23-qter and 22pter-q11.2 regions. The syndrome is marked by developmental delay, facial dysmorphism, heart defects, genital abnormalities and renal anomalies. In most cases, one of the parents is a carrier of a balanced translocation, t(11;22). The present case is of a two-month-old male child suffering from failure to thrive and developmental delay, who was found to have a karyotype of 47,XY,+der(22)t(11;22)(q23.3;q11.2)dmat, resulting from a maternal balanced translocation, t(11;22)(q23;q11.2). Molecular cytogenetic testing confirmed the presence of partial trisomy 22q11.2 in the proband. This report presents a case of partial trisomy 22q11.2 resulting from a maternal balanced translocation between the long arms of chromosomes 11 and 22, associated with Congenital Heart Defects (CHD) and Congenital Diaphragmatic Hernia (CDH). Approximately, 11 comparable cases have been reported in the Indian population, with variations in breakpoints observed in some. However, none of these previous cases have identified CDH as a phenotypic feature, making this case particularly noteworthy

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers.

Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical features of retinal dystrophy, obesity, postaxial polydactyly, renal anomalies, learning disabilities, hypogonadism, and genitourinary abnormalities. Nevertheless, previous studies on the phenotypic traits of BBS heterozygous carriers have generated inconclusive results. The aim of our study was to investigate the impact of BBS heterozygosity on carriers when compared to non-carriers within the Taiwanese population. Materials and Methods: This study follows a hospital-based case-control design. We employed the Taiwan Biobank version 2 (TWBv2) array to identify three specific loci associated with BBS (rs773862084, rs567573386, and rs199910690). In total, 716 patients were included in the case group, and they were compared to a control group of 2,864 patients who lacked BBS alleles. The control group was selected through gender and age matching at a ratio of 1:4. The association between BBS-related loci and comorbidity was assessed using logistic regression models. Results: We found that BBS heterozygous carriers exhibited a significant association with elevated BMI levels, especially the variant rs199910690 in MKS1 (p=0.0037). The prevalence of comorbidities in the carriers' group was not higher than that in the non-carriers' group. Besides, the average values of the biochemistry data showed no significant differences, except for creatinine level. Furthermore, we conducted a BMI-based analysis to identify specific risk factors for chronic kidney disease (CKD). Our findings revealed that individuals carrying the CA/AA genotype of the BBS2 rs773862084 variant or the CT/TT genotype of the MKS1 rs199910690 variant showed a reduced risk of developing CKD, irrespective of their BMI levels. When stratified by BMI level, obese males with the MKS1 rs199910690 variant and obese females with the BBS2 rs773862084 variant exhibited a negative association with CKD development. Conclusion: We found that aside from the association with overweight and obesity, heterozygous BBS mutations did not appear to increase the predisposition of individuals to comorbidities and metabolic diseases. To gain a more comprehensive understanding of the genetic susceptibility associated with Bardet-Biedl Syndrome (BBS), further research is warranted.

Goldenhar syndrome: An ephialte for the anesthesiologist – What we saw was just the tip of the iceberg

Goldenhar syndrome, also called oculoauriculovertebral dysplasia, is characterized by craniofacial, central nervous system, cardiac, renal, and vertebral anomalies. It occurs due to the faulty unilateral development of vertebral arches. Patients presenting for surgery are usually in the pediatric age group. General anesthesia is the preferred mode of anesthesia considering the type of surgery, age of the patient, and vertebral anomaly in this patient group. The first and foremost consideration while anesthetizing these patients is the anticipated difficult airway. Frequently encountered airway abnormalities in these patients are micrognathia, retrognathia, mandibular dysplasia, craniovertebral anomalies leading to limited neck flexion and cervical spine instability, decreased thyromental distance, fascial asymmetry, cleft lip and palate, high arched palate, dental abnormalities, and temporomandibular joint abnormalities. Difficult airways often come disguised as syndromes, and thorough pre-operative evaluation along with preparation for the worst scenarios is a must. We have a myriad of alternative airway management equipment at our disposal. Adequate knowledge is a must for their best use.

Optimizing management of congenital renal and urinary tract anomalies in children – efficient algorithms

Optimizing management of congenital renal and urinary tract anomalies in children – efficient algorithms

Right thoracic kidney – A rare case report in a female patient

Ectopic kidneys are one the most common forms of renal anomalies. However, intrathoracic kidneys are extremely rare, especially on the right side. Reporting of such cases is relatively very less common in the literature, particularly in the case of females. The current case is an accidental finding noted in a 56-year-old female who came with complaints of diffuse abdominal pain. An initial ultrasound abdomen revealed an absence of the right kidney in the right renal fossa and computer tomography done later revealed a right intrathoracic kidney with a higher origin of the right renal artery (T12 vertebral level). The right ureter was longer and opened into the bladder normally. The author presents this case because of its anatomical, developmental, and clinical importance.

Congenital Abnormalities Causing Hematocolpos: A Pictorial Essay.

Hematocolpos, characterized by the accumulation of menstrual blood in the vagina, is a rare condition often misdiagnosed due to its uncommon occurrence and non-specific symptoms. Main causes include imperforate hymen, obstructed hemivagina with ipsilateral renal anomaly (OHVIRA), congenital lower vaginal atresia, and complete transverse vaginal septum. Without early diagnosis and treatment, complications such as tubal adhesion, pelvic endometriosis, and infertility can occur. This article reviews the differential diagnosis and treatment of hematocolpos.

Acrorenal Syndrome: Case Series

Acral (limb) and renal anomalies occur together as a single developmental field defect or as components of several malformation syndromes. The embryogenesis of that defect was studied experimentally by Lash and the developmental relationship between kidneys and limbs has been reviewed by Buchta and Gilbert. The acral anomalies consist of split hand/ split foot, varying combination of oligodactyly, ectrodactyly, syndactyly, brachydactyly, polydactyly or fusion of carpal, tarsal, metatarsal bones of hands and feet. Urinary tract dysplasias are renal agenesis, duplication, ureteral hypoplasia, polycystic kidneys, hydronephrosis and bladder neck obstruction. The authors report three cases of acrorenal syndrome and discuss its clinical and laboratory findings.

Period Prevalence of Antenatally Diagnosed Congenital abnormalities; Single Center Study

Objective: To find out the period prevalence of congenital malformation diagnosed in security forces hospital – Riyadh –kingdom of Saudi Arabia, during the study period from Jan 2012 till Dec 2014 and the possible associated risk factors. Method: This is a retrospective chart review of all pregnant ladies who were following at security forces hospital – Riyadh – in the period between Jan 2012 till Dec 2014 in whom congenital abnormalities were diagnosed by ultrasound. Results: out of 18748 scans done for 9374 patients during the study period, 283 cases of congenital abnormalities were diagnosed, which gives a period prevalence of 3.02 %. The majority -around 70% of these anomalies- involved one body system; out of them 31% were renal anomalies. Conclusion: The period prevalence of congenital abnormalities in our study group is similar to that seen in other population worldwide. Strikingly enough, consanguinity in our population appears to play a major associated risk factor.

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

The objective of this work was to identify phenotypic features and cytogenetic aspects of trisomy 13 in Moroccan population. The retrospective study was conducted on a group of 9 cases diagnosed cytogenetically with trisomy 13. The study of sex ratio showed a slight female dominance in our group of cases. The major clinical findings included: Holoprosencephaly, microphthalmia and anophthalmia, coloboma of iris, cleft lip and palate, nasal and ear abnormalities, retrognathism and sloping forehead, polydactyly, capillary hemangiomas, omphalocele, congenital heart defect, renal abnormalities, cryptorchidism, language delay. The cytogenetic study showed the dominance of the free and homogeneous trisomy 13 (56%). Patients who have this formula are dead at an early age (does not exceed one month). However, each of the chromosomal formula, trisomy 13 by translocation and partial trisomy 13 t (13;18), was found in 20% of our patients. The partial trisomy 13 t (13;18) is the only variant that is still alive and the patients with this anomaly suffer mainly from renal and cardiac anomalies with slight dysmorphia and psychomotor retardation. Our study shows the interest of the cytogenetic analysis in the diagnosis accuracy and in the genetic counseling of patients with Patau syndrome and their parents.