scholarly journals A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.

1998 ◽  
Vol 35 (4) ◽  
pp. 348-348 ◽  
Author(s):  
P M Czarnecki ◽  
D L Van Dyke ◽  
S Vats ◽  
G L Feldman
Keyword(s):  
Dysplastic Kidney ◽  
Renal Malformations ◽  
Dysplastic Kidneys

scholarly journals MO043HYPERURICEMIA IS RELATIVELY COMMON IN CHILDREN WITH HNF1B MUTATION, BUT ITS UTILITY AS A CLINICALLY USEFUL MARKER FOR PREDICTING THE MUTATION IS LIMITED

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Marcin Kołbuc ◽  
Beata Bieniaś ◽  
Sandra Habbig ◽  
Mateusz Kołek ◽  
Maria Szczepanska ◽  
...  
Keyword(s):  
Uric Acid ◽  
Glucose Metabolism ◽  
Information Gain ◽  
Fractional Excretion ◽  
National Registry ◽  
Multicystic Dysplastic Kidney ◽  
Molecular Defect ◽  
Glucose Metabolism Disorders ◽  
Dysplastic Kidney ◽  
Renal Malformations

Abstract Background and Aims Hyperuricemia is recognized as an important feature of HNF1B nephropathy, and could serve as a good marker of the disease facilitating selection of patients for genetic testing. However, neither the casual relationship nor its predictive value have been proven yet. We thus decided to assess this in a cohort of children with renal malformations with (mut+) and without HNF1B mutations (mut-). Method We performed a retrospective analysis of clinical and genetic results of pediatric patients tested for HNF1B mutations, whose data were collected in a national registry. Hyperuricemia was assessed by using the newest, age- and gender-dependent reference values for serum uric acid (sUA) in children. Results A total of 108 children were included into the study comprising 43 mut+ patients, and 65 mut- subjects. Mean sUA was higher in mut+ than in mut- subjects (p = 0.006), and hyperuricemia was more prevalent in those with HNF1B mutations (42.5% vs. 15.4%, p = 0.002). Renal phenotype analysis revealed renal hyperechogenicity and multicystic dysplastic kidney disease were more frequent in mut+ patients, but no influence of any renal features/phenotypes on hyperuricemia was found. The two patient cohorts were different with regard to pancreatic anomaly (p < 0.001), glucose metabolism disorders (p = 0.003), hypomagnesemia (p < 0.001), and hyperparathyroidism (p < 0.001). In a multivariate linear stepwise regression model, eGFR, fractional excretion of uric acid, impairments in glucose metabolism and pancreatic anomaly were found to be independent predictive variables of sUA (R2=0.67, F=13.27, p < 0.001). Mutation was not identified as a determinant of sUA. After exclusion of patients with hyperglycemia and/or pancreatic malformations, the difference in hyperuricemia prevalence did not persist between mut+ and mut-. Potential of hyperuricemia for mutation prediction was tested in a model with hypomagnesemia and hyperparathyroidism, which showed an accuracy of 85% (sensitivity: 83%, specificity: 86%). Adding hyperuricemia to the model did not increase the accuracy (79%; sensitivity: 77%, specificity: 82%). Information gain, which informs selective potential of each parameter, was the lowest for hyperuricemia (0.34 compared with 0.99 and 0.63 for hyperparathyroidism and hypomagnesemia, respectively). Conclusion Hyperuricemia is relatively common in children with HNF1B mutation, however its direct association with this molecular defect remains still unproven. Its dependence on renal function and hyperglycemia diminishes the utility as a clinically useful marker for predicting HNF1B disease.

Association of Wilms tumor in multicystic dysplastic kidneys: case report and review of the literature

2021 ◽  
pp. 205141582110240
Author(s):  
Darian Andreas ◽  
Richard D Glick ◽  
Jonathan D Fish ◽  
Carolyn Fein Levy ◽  
Jordan S Gitlin
Keyword(s):  
Case Report ◽  
Antenatal Diagnosis ◽  
Wilms Tumor ◽  
Multicystic Dysplastic Kidney ◽  
Review Of The Literature ◽  
Level Of Evidence ◽  
Renal Anomalies ◽  
Dysplastic Kidney ◽  
Increased Risk ◽  
Dysplastic Kidneys

Multicystic dysplastic kidney is a rare urinary anomaly characterized by multiple non-communicating cysts resulting in a non-functional kidney. In addition to association with hypertension and contralateral renal anomalies, children with multicystic dysplastic kidney have an increased risk of Wilms tumor. Cohort studies and systematic reviews are hampered in estimating the true risk of this association due to the rarity and infrequent reporting of the condition. We present a case of a 2-year-old male child with an antenatal diagnosis of multicystic dysplastic kidney undergoing surveillance ultrasonography who presented with a symptomatic Wilms tumor. Level of evidence: Not applicable for this multicentre audit.

Cytogenomic aberrations in isolated multicystic dysplastic kidney in children

2021 ◽  
Author(s):  
Tian-Jian Chen ◽  
Renfang Song ◽  
Adam Janssen ◽  
Ihor V. Yosypiv
Keyword(s):  
Multicystic Dysplastic Kidney ◽  
Dysplastic Kidney

scholarly journals Laparoscopic transposition for crossing vessels (vascular hitch) in pure extrinsic pelvic-ureteric junction obstruction: a successful case report of a 2-year-old infant with horseshoe kidney

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Satoshi Ieiri ◽  
Kouji Nagata
Keyword(s):  
Laparoscopic Surgery ◽  
Left Kidney ◽  
Horseshoe Kidney ◽  
Renal Scintigraphy ◽  
Multicystic Dysplastic Kidney ◽  
Extrinsic Compression ◽  
Dysplastic Kidney ◽  
Renal Vessels ◽  
The Right ◽  
Crossing Vessels

Abstract Background Pediatric hydronephrosis induced by pelvic-ureteric junction obstruction (PUJO) is treated by dismembered pyeloplasty (DP) via open and laparoscopic surgery. The etiology of PUJO involves both intrinsic stenosis and extrinsic compression of crossing vessels (CVs). PUJO owing to CVs is also treated by DP, as there is no consensus concerning this vascular condition. We encountered a 2-year-old infant with pure extrinsic PUJO combined with horseshoe kidney who successfully underwent laparoscopic transposition for CVs (vascular hitch). Case presentation A 2-year-old boy was prenatally diagnosed with left multicystic dysplastic kidney (MDCK) and right hydronephrosis and received a definitive diagnosis after birth. At 6 months old, renal scintigraphy revealed a non-functioning pattern in the left kidney and an obstructive pattern in the right, showing no response to furosemide loading. The patient also had recurrent urinary tract infection, and his right hydronephrosis gradually worsened. We decided to perform surgery for the right PUJO. Preoperative enhanced computed tomography detected three right renal vessels independently branching from the abdominal aorta. The middle renal vessels were located at the ventral side of the pelvis and coincident with the site of PUJO. These vessels were suspected of being CVs. The patient underwent laparoscopic surgery electively. A 5-mm trocar was inserted at the umbilicus for a 5-mm, 30° rigid scope. Two additional ports were then inserted under laparoscope inspection. The dilated right pelvis and CVs were detected after ascending colon mobilization. To confirm the pathogenesis of PUJO, the CVs were dissected and taped. After taping the CVs, an intraoperative diuretic test was performed using furosemide loading. Peristalsis of the right ureter was recognized, and the extrinsic PUJO owing to the CVs was definitively confirmed. We therefore performed transposition for the CVs (vascular hitch procedure). The CVs were mobilized in the cranial direction and those were wrapped by dilated pelvis. The post-operative course was uneventful. The renal scintigraphy findings improved and showed a favorable response of furosemide loading. Conclusions The laparoscopic vascular hitch procedure is minimally invasive and effective for extrinsic PUJO due to CVs. Anastomotic stricture after Anderson and Hynes DP can be prevented by appropriate patient selection.

Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Ganesh S. Jevalikar ◽  
Margaret Zacharin ◽  
Mary White ◽  
Steven W. Yau ◽  
Winnie Li ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Turner Syndrome ◽  
Quantitative Polymerase Chain Reaction ◽  
Inhibitor Of Apoptosis ◽  
Aortic Valves ◽  
Inhibitor Of Apoptosis Protein ◽  
Abnormal Expression ◽  
Apoptosis Protein ◽  
Renal Malformations ◽  
Bicuspid Aortic Valves

AbstractWe analyzed mRNA expression of X-linked inhibitor of apoptosis protein (XIAP) in patients with Turner syndrome (TS) and examined its association with phenotypic features.XIAP mRNA expression levels were investigated in 98 patients with TS in total RNA extracted from blood leucocytes by real time quantitative polymerase chain reaction.Levels of XIAP mRNA were significantly lower in patients with bicuspid aortic valves (BAV; n=13) than those without (log XIAP –1.17±0.3 vs. –0.94±0.2, p=0.002). Significantly higher expression of XIAP mRNA was seen in patients with a mosaic karyotype and renal malformations (log XIAP –0.79±0.3 vs. –1.0±0.3, p=0.03). No correlations were seen between XIAP and other manifestations.Abnormal expression of XIAP may be an important underlying mechanism in the development of BAV and renal malformations in TS. However, abnormal XIAP mRNA expression, as determined from peripheral mononuclear cells, does not appear to explain all the somatic and visceral stigmata of TS.

Multicystic Dysplastic Kidney: Conservative Management and Follow-Up

Renal Failure ◽  
2005 ◽  
Vol 27 (2) ◽  
pp. 189-192 ◽  
Author(s):  
Said Al-Ghwery ◽  
Abdulrahman Al-Asmari
Keyword(s):  
Conservative Management ◽  
Multicystic Dysplastic Kidney ◽  
Dysplastic Kidney
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