Left Ectopic Kidney Research Articles

Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings.

Schimke Immuno-Osseous Dysplasia (SIOD) (MIM:242900) is an ultra-rare autosomal recessive pan-ethnic pleiotropic disease. Typical findings of this syndrome are steroid-resistant nephrotic syndrome, cellular immunodeficiency and spondyloepiphyseal dysplasia and facial dysmorphism. Biallelic variants in the SMARCAL1 gene cause SIOD. The five-and-half-year-old female patient was evaluated because of short stature, dysmorphism, hypercalcemia, hypophosphatemia and elevated FSH levels. Karyotype analysis and array-CGH testing were normal. Clinical Exome Sequencing was performed via next-generation sequencing to analyze genes associated with hypophosphatemia. No pathogenic variant was detected. The subsequent detection of proteinuria during her follow-up for cross-fused ectopic left kidney ultimately facilitated the diagnosis of SIOD, although no obvious spondyloepiphyseal dysplasia was detected. Re-analysis of CES revealed a novel homozygous c.2422_2427+9delinsA pathogenic variant in the SMARCAL1. One hundred twenty-five SIOD cases from 38 literature reporting SMARCAL1 gene pathogenic variants were reviewed to investigate whether hypercalcemia, hypophosphatemia and elevated FSH levels had been previously reported in SIOD patients. This review revealed that this was the first time these findings had been reported in a SIOD patient. This report expands not only the phenotypic but also genotypic spectrum of SIOD.

Renal Ectopia in the Pelvic Area: A Rare Case

Renal ectopia is a positional defect during development, consistently accompanied by malrotation, always involving abnormal vascularization with one or more ectopic arteries and a ureter of appropriate length for the location of the kidney. It is distinct from renal ptosis. Several types of ectopias are distinguished: on one hand, simple ectopias occurring in the vertical direction (intrathoracic kidney, low-lying kidney) or in the transverse direction (crossed ectopia), and on the other hand, ectopias with symphyses. Pathological pelvic ectopic kidney is rare. It is often revealed by pain, infectious complications, urinary lithiasis, or sometimes fortuitous discovery. We report the case of a 60-year-old patient with a history of hip prostheses, incidentally discovering, through a diagnostic assessment for nephritic colic due to contralateral ureteral lithiasis, a left ectopic kidney in the pelvic area on a CT scan. Based on this case and literature data, we will discuss the etiopathogenic, clinical, radiological, and therapeutic aspects of this malformation.

Endometriosis in an ectopic kidney: a rare case report and literature review

BackgroundEndometriosis mainly occurs in female pelvic organs. Endometriosis in the kidney is extremely rare.Case presentationWe herein describe a case of a 19-year-old girl with occasional mild abdominal pain associated with an ectopic left kidney. SPECT-CT showed no abnormal radioactive distribution in the left pelvis, suggesting loss of function of the ectopic kidney. Laparoscopic left ectopic kidney resection was subsequently performed. Histopathology revealed endometriosis of the ectopic left kidney.ConclusionsIn female patients with clinical manifestations of abdominal pain and gross hematuria, the possibility of renal endometriosis should be considered.

Right upper lobe agenesis associated with dextroposition of heart and ectopic kidney in an adult patient attending pulmonary medicine outpatient department: A rare case report from South India

Pulmonary agenesis is a rare congenital anomaly that results from the unsuccessful growth of the primitive lung buds. A case of lung agenesis was first reported in 1673 during an autopsy. Pulmonary agenesis includes agenesis, aplasia, and hypoplasia as the three most common types. The survival rate is <50% by the age of 5 years in case of agenesis. Fifty percent of the cases of lung agenesis are associated with various congenital defects such as cardiovascular, central nervous system, gastrointestinal, genitourinary, skeletal, Down syndrome, and Klippel–Feil syndrome. Here is the case of a 28-year-old male who presented with on-and-off cough and dyspnea for 3 years. On systemic examination, the patient had signs suggestive of loss of right lung volume. Chest x-ray showed right side volume loss with ipsilateral mediastinal shift with compensatory hyperinflation of the left lung. Computed tomography (CT) thorax with abdomen was suggestive of dextroposition with absent right upper lobe parenchyma, right upper lobe bronchus, right upper lobe artery, and superior pulmonary vein with the absence of hemiazygos vein with ectopic left kidney in the pelvis. Early identification of pulmonary agenesis is vital in preventing fibrosis in patients with unilateral lungs which might develop as a result of recurrent chest infections. Caution and vigilance will lead to a good prognosis.

Ectopic and Mal-rotated kidney with bilateral hydronephrosis – Case report

INTRODUCTION: The term ectopic kidney is used to describe a kidney that is found in a place that is not its normal anatomic position while malrotation refers to the abnormal orientation of the kidney. These two are some of the congenital malformations that the kidney is predisposed to in its embryogenesis.CASE: The current findings were discovered during routine dissections in the Gross lab of the Human Anatomy Department of the University of RwandaA left ectopic kidney with a relatively larger than normal size (10.5cm × 5.2cm) was found with the main blood supply arising from the median sacral artery and two other accessory arterial supplies arising from the abdominal aorta. The kidney was mal-rotated, facing laterally, with the ureter on both sides dilated. CONCLUSION: Knowing kidney variations is ever more important with the rate of increase in renal transplantations and vascular surgeries

Congenital anomalies-associated Riga\u2013Fede disease as an early manifestation of Lesch\u2013Nyhan syndrome: rare entities in the same pediatric patient\u2014a case report

BackgroundRiga–Fede disease is a rare begnin disorder of the oral tissues, it can be associated with congenital anomalies and neurological disturbances. Lesch–Nyhan syndrome is a rare X-linked recessive disorder characterized by neurological and behavioral manifestations. A patient can rarely be diagnosed with both diseases in a lifetime. Therefore, reporting manifestations from such disorders is important to avoid misdiagnosis and help in timely intervention.Case presentationThis case report presents an 8-months-old male infant with traumatic oral ulcers from deciduous teeth. A diagnosis of Riga–Fede disease was made. Teeth grinding was performed and the oral lesions were healed. At the age of 2.5 years, the patient presented with neurological manifestations as well as facial tissue and premature teeth loss from self mutilation. Genetic sequencing revealed a variant of uncertain significance in the Hypoxanthine Phosphoribosyltransferase 1 gene. He was diagnosed with Lesch–Nyhan syndrome. Cleft palate, ventricular septal defect, congenitally undescended testis and ectopic left iliac kidney were also reported. The patient was scheduled on psychiatric treatment and after about six months of follow-up, both the behavioral and neurological symptoms were improved.ConclusionsRiga–Fede disease can be an early manifestation of Lesch–Nyhan syndrome. To the best of our knowledge, this is the first reported case with the incidence of all the mentioned entities in one pediatric patient.

Laparoscopic Pyelolithotomy for Recurrent Stone in Previously Operated Ectopic Pelvic Kidney

An ectopic kidney is a rare congenital anomaly that has been associated with complications as reflux, hydronephrosis, nephrolithiasis, and sometimes renal failure. Calculous diseases in the pelvic kidney due to their anatomical characteristics pose a significant challenge to the surgeon. We herein report a case of transperitoneal laparoscopic pyelolithotomy for treatment of renal pelvis stone in an ectopic pelvic kidney who had already undergone open pyelolithotomy in past. A 34 years old man presented to our hospital with pain abdomen for five months and a history of left open pyelolithotomy done almost eleven years back. Computed tomography scan revealed severe hydronephrosis and 3.5 cm calculus in the pelvis of ectopic malrotated left kidney. The patient underwent left laparoscopic pyelolithotomy, complete stone clearance was achieved, 20 fr drain was placed with no DJ (Double J) stent. For two consecutive days there was significant drain output, subsequently cystoscopy with DJ stenting was done then drain output was reduced. On fifth postoperative day the drain was removed and he was discharged. In a patient with a malrotated pelvic kidney with recurrent stone and past surgery, proper pre-operative evaluation & the selection of the most appropriate surgical technique play a crucial role to get the best surgical outcome. Keywords: Ectopic kidney, laparoscopy, pyelolithotomy, renal pelvic calculous.

A case report of non-functional ectopic left kidney obstructing the right kidney in crossed fused kidneys: A rare entity

Introduction and importanceCrossed fused renal ectopia is a rare congenital condition that might pose some diagnostic and therapeutic challenges to clinicians. We report a patient with a non-functional crossed fused ectopic left kidney that obstructed the orthotopic kidney in a rarely observed situation.Case presentationA 68-year-old male presented a right flank pain with fever. The diagnosis of right obstructive pyelonephritis was dressed, after biological and radiological investigations. The obstacle was a crossed ectopic left kidney in its inferior variety. The ectopic kidney was non-functional as result of an obstructive ureteral calculus. The patient had right ureteral stenting with a double-J catheter. Three months later, left nephrectomy was performed by lumbotomy. Per operative difficulties were mainly the infiltration of peri renal fat, the anarchic vascularization and the multiple small pedicles of the ectopic kidney that was also malrotated with the hilum facing anteriorly. Postoperative recovery was uneventful and the patient left the hospital after three days.Clinical discussionCrossed Fused renal ectopy is rare. As shown in this case, the ectopic kidney might cause damage to the orthotopic kidney, by compression to urinary ducts. Surgery is the main treatment option. Some difficulties related to aberrant vascularization and possible malrotation is to preview.ConclusionCrossed fused renal ectopia is uncommon renal anomaly, mostly asymptomatic. However, it may be responsible of some complications, sometimes severe. Surgery can be delicate due to vascular complexity.

Childhood Varicose Veins–An Unusual Visceral “May–Thurner” Like Compression

AbstractWe report the case of 8-year-old girl with left lower limb edema due to superficial venous incompetence and varicosities. Color Doppler demonstrated compression of the left common iliac vein by an ectopic left kidney, which was partly relieved in right lateral decubitus position. CT demonstrated ectopic malrotated pelvic kidney, compressing the left common iliac vein against the L5 vertebra. A “May–Thurner” like syndrome due to visceral compression needs to be suspected in children with unilateral left lower limb varicosities.

Simple ectopic left kidney in the pelvic cavity in a cat.

Simple ectopic left kidney in the pelvic cavity in a cat.

Pulmonary agenesis with VACTERL association: A rare case with review of literature

Pulmonary agenesis is an extremely rare congenital malformation with an estimated frequency of 1 in 10000-15000 autopsies and 34 per million live births. In 50% cases it is associated with other malformations i.e. cardiovascular, musculoskeletal, gastrointestinal and renal. We report a rare case of a male neonate with right pulmonary agenesis associated with VACTERL sequence (L5 hemi-vertebra, right absent kidney with left ectopic kidney and right radial agenesis). This association was never reported in published literature.

Renal agenesis with ureterocele, duplicated megaureter and translocation of seminal vesicle: a case report and review of the literature

Background: Renal agenesis is a congenital malformation that occurs due to the inhibition of metanephric blastema induction due to a decrease in ureteric bud activity. Although renal agenesis is not very rare, unilateral renal agenesis with ureterocele occurs rarely, and the coexistance of unilateral renal agenesis, ureterocele, and blind ended proximal ureter is very rare. Recently, we experienced a case of left renal agenesis with huge ureterocele, blind ended proximal ureter, and duplicated ureter on Computed tomography (CT) of a 17-year-old man who visited our emergency department with hematuria. Ureterocelectomy and nephrectomy were performed, and a translocation of seminal vesicle was also observed. This case is a very rare case, so we judged that it may be helpful in making treatment decisions in similar cases later. Case summary: A 17-year-old man without specific medical history visited our emergency department with hematuria and voiding difficulty. CT showed left ectopic kidney, megaureter and the blind ended proximal ureter. After ureterocelectomy and nephrectomy, pathological examination revealed seminal vesicles in the periphery of the kidney. After one year, the patient has no complications and no complaining symptoms complaints without any abnormal finding of follow up imaging test. Conclusions: This case report focuses on the treatment of renal agenesis with ureterocele, blind ended proximal ureter, duplicated megaureter and translocation of seminal vesicle. This rare case of treatment will be helpful in the determination of treatment for similar cases in the future. To establish standard treatment, data accumulation and well-designed studies are required.

Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function

Marshall-Smith syndrome (MSS) is a rare genetic condition characterized by different clinical features, such as accelerated skeletal maturation, growth retardation, neuropsychomotor delay, and characteristic facial abnormalities. This study describes a 2-year-old boy presenting longiline appearance, macrocephalus with trigonocephaly, prominent eyes with bluish sclera, middle face hypoplasia, micrognathia, dysplastic ears, hirsutism, narrow and asymmetrical thorax, hypoplastic scrotal sac, cryptorchidism, joint laxity, hypoplastic toenails, and large sacral dimple with prominent coccyx. Abdominal ultrasonography showed an enlarged left ectopic kidney and skull computed tomography revealed signs of early closure of the metopic suture. High-resolution GTG banding karyotype and high-density CytoScan HD array did not identify abnormalities associated to the patient clinical findings. NFIX sequencing revealed a de novo variant consisted of a seven nucleotides duplication in exon 8. We suggest that some clinical findings, as glaucoma, trigonocephaly and ectopic kidney are underestimated and should be considered within the clinical spectrum of the syndrome. In addition, the NFIX variant identified in our patient is unusual among patients with MSS and has not yet been described in the literature. We present some mechanisms that could be involved in the impairment of proper NFIX protein function.

Zinner Syndrome-From Diagnosis to Successful Treatment-A Case Report

A seventeen-year-old boy was admitted and referred for MR evaluation of acute abdominal and pelvic irritation and discomfort, dysuria and severe pain during ejaculation, the latter symptoms coincident with puberty and the onset of sexual activity. Prior ultrasound had revealed findings consistent with a hypoplastic, hydronephrotic, ectopic left kidney and compensatory hypertrophy of the right kidney. The improved tissue resolution and more precise anatomical delineation of the genitourinary tract afforded by MRI revealed the typical triad of Zinner’s syndrome-unilateral renal agenesis, ipsilateral seminal vesical cysts and obstruction of the ejaculatory duct. MRI not only facilitated the final correct diagnosis, but also supported surgical planning and successful treatment-laparoscopic resection of the left seminal vesicle, which led to complete cure, symptomatic relief and restoration of fertility. Knowledge and understanding of the anatomy and embryology of the genitourinary tract is necessary for obtaining the accurate diagnosis by using appropriate imaging modalities.

A case of left undescended testis with ipsilateral ectopic kidney

Undescended testis is one of the most common congenital anomalies in newborns. Incidence of this is anywhere between 1.6% and 9.0%. The incidence dramatically drops to 0.9-1.8% at 3 months of age. This is due to the spontaneous descent of the testes. The complications of undescended testes are infertility and malignant transformation. A 29-year-old unmarried male patient came to the hospital with complained of absent of left testis within scrotal sac since birth and a left inguinal swelling since 1 year with no other complaints. On examination, the left scrotal sac was empty. The right side scrotum was normal and testis was palpable within scrotal sac. On USG, examination findings were confirmed Left testis seen in relation to lower pole of left kidney in left inguinal region with normal echo texture s/o left ectopic testis. Left kidney in pelvic region at paramedian location with hilum facing anteromedially s/o left ectopic kidney. Early diagnosis and surgical intervention is key so as to preserve the undescended testis and prevent malignant change or infertility problems. It is imperative that all tests be done to assess kidney function.

Pelvic dystopia of right rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in a patient with a\xa0single pelvic ectopic left kidney, and agenesis of the\xa0uterus and vagina (Mayer-Rokitansky-K\xfcster-Hauser syndrome): a case report

BackgroundPelvic dystopia of rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in children.Case presentationWe report the case of a 14-year-old Kazakh girl who presented with difficulty in starting the stream of urine and intermittent interruption of the urinary stream while voiding as well as bedwetting, caused by a rare congenital disease (pelvic dystopia of rudimentary multicystic dysplastic kidney). The diagnostic workup, differential diagnosis, and management, and a review of the literature are presented. Persistent since she was 2 years old, bedwetting was stressful for both the parents and child. Initially detected radiologically and endoscopically, a bladder mass was thought suspicious for ureterocele, papilloma, or mixed tumor of the urinary bladder, but surprisingly, turned out to be a pelvic dystopia of the rudimentary multicystic dysplastic kidney. Transvesical excision of this mass was performed.ConclusionsThe purpose of this case report is to draw attention to the fact that a persistent case of bedwetting which does not respond to conventional therapy should be subject to further examinations to exclude surgical causes of the disease.

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS.

A rare form of crossed nonfused renal ectopia, multicystic dysplasia: A case report

We report a 6 months-old male who presented a rare phenomenon of nonfused crossed renal ectopia associated with multicystic dysplasia. Male, prenatally diagnosed with cystic lesion in right hypocondria, presented as palpable mass in right upper abdominal quadrant at birth. Detailed radiologic evaluation including laparotomy confirmed a diagnosis of multicystic dysplasia in a crossed non-fused left ectopic kidney and leading to partial right ureteral obstruction, treated by surgical removal of the lesion.

A giant hydronephrotic pelvic kidney mimicking an ovarian cyst in a 34-week pregnancy

Background: A giant hydronephrosis is defined as a dilated pelvi-calyceal system with an amount of urine exceeding one Litre in the urinary tract of an adult. It can mimic several other clinical conditions including a huge ovarian cyst. An ectopic pelvic kidney with hydronephrosis in pregnancy is a rare occurrence. Aim: This study documents a case of giant hydronephrosis that was wrongly diagnosed as an ovarian cyst. Findings: A 36-year old primiparous with a giant hydronephrosis which was initially diagnosed as an ovarian cyst. She was planned for a laparotomy with caesarean section and ovarian cystectomy at 34 weeks gestation. She was delivered of a live female neonate. Further exploration was done which revealed a left ectopic kidney. She had a left simple nephrectomy because the kidney appeared totally unhealthy. Conclusion: There is a need to be careful when dealing with cystic lesions of the abdomen. A high index of suspicion is required and further imaging other than ultrasound scan such as computerized tomography or magnetic resonance imaging may be necessary to make accurate diagnosis. Keywords: Caesarean section, ectopic gestation, hydronephrosis, urinary tract, cystectomy, ovarian cysts

Ectopic Kidney and Lymph Nodes and Intra-abdominal Testicular Structure in a Freemartin Holstein Friesian Calf

Freemartinism in a 3.5 months-old Holstein Friesian calf was investigated. External examination of the animal revealed the presence of two vulvar openings ventral to the anus. The urine is voided from the lower aperture. Transrectal palpation and ultrasonography revealed an ectopic left kidney in the caudal abdomen. At autopsy, an ectopic left kidney, right unilateral cryptorchidism, left testicular aplasia and intra-abdominal edema were the main findings observed. Histopathologically, narrowing of the seminiferous tubules and degenerative changes of the sertoli cells were recorded. This is the first report of testicular cryptorchidism and aplasia and ectopic kidney in free martin calf.