Bilateral fused pelvic kidney ectopia with a single draining ureter solved by craniolateral displacement of the kidney and Boari‐modified bladder–calyceal anastomosis with bladder augmentation

Ignjatović, Ivan; Stojkovic, Ivica; Dinić, Ljubomir; Jovanović, Milan; Ivanović, Dragan

doi:10.1111/j.1442-2042.2006.01703.x

Cited by 4 publications

(2 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although our finding of early expression peak of SMARCAL1, as well as localization in metanephric mesenchymal cells and in Wilms' tumor (early defect of nephrogenesis), correlates with the presence of renal malformation (crossed fused ectopic kidney) in the index patient, this phenotype has not been previously reported in SIOD and may represent an incidental finding. Indeed, the population incidence of renal ectopia, encompassing crossed fused ectopia, is approximately 1 in 10,000 patients, and in different autopsy series it is detected in 1 in 1,000 to 1 in 7,000, which is higher than SIOD (15). Nevertheless, we suggest this finding, which might have been overlooked in the past as part of the renal phenotype of SIOD.…”

Section: Discussioncontrasting

confidence: 48%

Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype

et al. 2008

View full text Add to dashboard Cite

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder caused by loss-of-function mutations in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome, and immunodeficiency. We report a patient with SIOD and SMARCAL1 splice mutation (IVS4-2 AϾG) in a nonconsanguineous Ashkenazi family, who came to our attention at 1 mo of age due to renal malformation and only later developed signs compatible with Schimke. Interestingly, residual SMARCAL1 mRNA levels in the patient's peripheral blood were lower compared with those observed in both asymptomatic brothers' carrying the same bi-allelic mutation, whereas the latter had levels similar to those found in heterozygous carriers (parents and sister). Examination of the carrier frequency of the splice mutation in the Ashkenazi population demonstrated 1 carrier in 760 DNA samples. In situ localization of SMARCAL1 in human kidneys as well as analysis of its temporal expression during murine nephrogenesis and in the metanephric organ culture suggested a role in the early renal progenitor population and after renal maturation. Thus, disease severity within the same family might be modified by the splicing machinery. The renal expression pattern of SMARCAL1 explains a broader spectrum of renal disease in SIOD than previously described. (Pediatr Res 63: 398-403, 2008) S chimke immuno-osseous dysplasia (SIOD) is characterized by autosomal recessive inheritance, spondyloepiphyseal dysplasia causing growth retardation, defective cellular immunity, progressive nephropathy leading to renal failure, hyperpigmented macules, and dysmorphic facial features (1-4). Half of SIOD patients also have hypothyroidism, half episodic cerebral ischemia, and a tenth bone marrow failure.SIOD is caused by mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1(SMARCAL1) (5). SNF2 related proteins participate in the DNA nucleosome restructuring which commonly occurs during gene regulation and DNA replication, recombination, methylation, and repair (6,7).Recent analysis of detailed autopsies to correlate clinical and pathologic findings in SIOD identified T cell deficiency in peripheral lymphoid organs, defective chondrogenesis, focal segmental glomerulosclerosis (FSGS), cerebral ischemic lesions, and premature atherosclerosis (8).Herein, we report on a male patient, 6 y old, who came to our attention after birth due to renal malformation and later on developed growth retardation, bone dysplasia, and steroidresistant nephrotic syndrome and was shown to harbor a bi-allelic SMARCAL1 splice mutation. Investigation of his nonconsanguineous Ashkenazi family lead us to discover phenotypic diversity and variable expressivity of SMARCAL1 in the family along with low carrier frequency of the splice mutation in the Ashkenazi population. In addition, in situ localization of SMARCAL1 in the...

show abstract

Section: Discussioncontrasting

confidence: 48%

Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype

et al. 2008

View full text Add to dashboard Cite

show abstract

“…The injury may necessitate the removal of the ectopic kidney [1]. Ignjatovic et al [9] also suggested that surgery in ectopic kidneys, if performed, should be done only once and should preferably be a nephrectomy. On the other hand, there are occasional reports of such injuries being managed conservatively [10].…”

Section: Discussionmentioning

confidence: 99%

Management of an Iatrogenic Injury in a Crossed Ectopic Kidney Without Fusion

et al. 2014

View full text Add to dashboard Cite

Crossed renal ectopia is a condition in which a kidney is located on the side opposite of its ureteral insertion. Ninety percent of crossed ectopic kidneys are fused to their ipsilateral uncrossed renal unit. Crossed renal ectopia without fusion is rare, with only 62 patients reported in the literature to date. These kidneys may suffer iatrogenic injury during an unrelated surgical intervention. The injury, unless self-limiting, may necessitate the removal of the ectopic kidney. We present a unique case of a dual injury, renal as well as ureteric, in a crossed ectopic kidney without fusion that was successfully managed without surgical excision.

show abstract

Pelvic Cake Kidney With a Solitary Ureter and Bilateral Congenital Absence of the Vas Deferens

Schwartz

Bartolotta

Brill

et al. 2010

Urology

View full text Add to dashboard Cite

Bilateral fused pelvic kidney ectopia with a single draining ureter solved by craniolateral displacement of the kidney and Boari‐modified bladder–calyceal anastomosis with bladder augmentation

Cited by 4 publications

References 6 publications

Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype

Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype

Management of an Iatrogenic Injury in a Crossed Ectopic Kidney Without Fusion

Pelvic Cake Kidney With a Solitary Ureter and Bilateral Congenital Absence of the Vas Deferens

Contact Info

Product

Resources

About