Clinical characteristics and risk factors of renal function deterioration in children with renal dysplasia complicated with chronic kidney disease / 现代泌尿外科杂志

【Objective】 To explore the clinical characteristics and risk factors of renal function deterioration in children with renal dysplasia and chronic kidney disease (CKD), so as to provide a basis for the diagnosis, treatment, and management. 【Methods】 The clinical data of children with renal dysplasia complicated with CKD treated in the Children’s Hospital of Chongqing Medical University during 2012 and 2022 were retrospectively analyzed, including the gender, age of diagnosis, growth index, concomitant malformation and complications. According to the diagnostic criteria and staging standard of KDIGO2020 guidelines, patients with disease deteriorated to CKD stage 4-5 were enrolled into the regression group. Factors affecting the deterioration of renal function were determined with Cox regression analysis. 【Results】 A total of 122 children were involved, including 66 (54.1%) with CKD stag 4-5. There were more boys than girls. Bilateral and unilateral renal dysplasia occurred in 88 (72.13%) and 34 (27.87%) cases, respectively, and 64 (52.46%) cases were complicated with other urinary diseases. There were significant differences in weight, height and body mass index (BMI) among patients with CKD stage 1-5 (P<0.01). The age of onset of CKD <10 years, BMI lower than the 3rd percentile of the same sex and age, bilateral renal dysplasia, and one or more complications of congenital renal and urinary tract abnormalities (CAKUT) were the risk factors of deterioration of renal function (P<0.05). 【Conclusion】 Renal dysplasia complicated with CKD are more common in boys, with high incidence of bilateral renal dysplasia. Bilateral renal dysplasia, age of onset of CKD <10 years, BMI lower than 3% and complications are important influencing factors of renal dysplasia in children with CKD.

Tumor de Wilms en displasia renal multiquística

RESUMEN Introducción: La displasia renal multiquística es una anomalía congénita caracterizada por un riñón afuncional con quistes de diferentes tamaños. Es considerada como una anomalía del desarrollo, aunque se han descrito casos hereditarios. Se ha puntualizado la degeneración maligna de esta displasia, pero su asociación es muy rara. Objetivo: Describir una paciente con tumor de Wilms asociado a una displasia renal multiquística. Presentación del caso: Paciente de sexo femenino y 10 años de edad que los ultrasonidos prenatales no detectaron anomalías del tracto urinario y a los 7 años un estudio ecográfico detectó quistes en el riñón izquierdo. No cumplió el seguimiento clínico y ultrasonográfico indicado y abandonó la consulta; los 10 años asistió al médico por síntomas respiratorios agudos y al palpar el abdomen se comprobó masa en flanco izquierdo de consistencia leñosa, no dolorosa y con contacto lumbar. Se realizó biopsia renal y se diagnosticó tumor de Wilms, se impuso tratamiento citostático y se realizó nefrectomía que confirmó el diagnóstico. Entre los antecedentes familiares se informa un hermano fallecido antes de las 72 horas de nacido por displasia renal multiquística bilateral y madre con nefropatía por reflujo vesicoureteral. Conclusiones: La paciente que se describe reúne tres características raras: un tumor maligno asociado a una displasia renal multiquística, la posibilidad hereditaria por el antecedente del hermano con la displasia bilateral y un tumor de Wilms a los 10 años de edad, lo que demuestra la importancia del seguimiento en estos pacientes.

ABSTRACT Introduction: Multicystic renal dysplasia is a congenital anomaly characterized by an afunctional kidney with cysts of different sizes. It is considered a developmental abnormality, although hereditary cases have been described. The malignant degeneration of this dysplasia has been pointed out, but its association is very rare. Objective: Describe a patient with Wilms tumor associated with multicystic renal dysplasia. Case Presentation: 10-year-old female patient to whom prenatal ultrasounds did not detect urinary tract abnormalities and at age 7 an ultrasound study detected cysts in the left kidney. She did not comply with the indicated clinical and ultrasonographic follow-up and left the consultation; at 10 years old, she attended the doctor for acute respiratory symptoms and when palpating the abdomen there was a mass on the left flank of woody consistency, not painful and with lumbar contact. A renal biopsy was conducted and Wilms tumor was diagnosed; cytostatic treatment was indicated, and a nephrectomy was performed that confirmed the diagnosis. Among the family history is reported a brother who died before 72 hours of birth due to bilateral multicystic renal dysplasia and a mother with nephropathy by vesicoureteral reflux. Conclusions: The described patient has three rare characteristics: a malignant tumor associated with multicystic renal dysplasia, the hereditary possibility due to the sibling's history of bilateral dysplasia, and a Wilms tumor at 10 years of age, which demonstrates the importance of follow-up in these patients.

Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation / 中华内科杂志

Objective:To analyze the clinical characteristics and molecular mechanisms of 5 cases of hypoparathyroidism caused by GATA3 gene mutation.Methods:A total of 5 childhood-onset hypoparathyroidism patients with GATA3 mutation were identified from 198 hypoparathyroidism (aged ≤18 years) from 1975 to 2021 in Peking Union Medical College Hospital. Clinical data and biochemical indices of the 5 patients were collected and analyzed retrospectively. Genetic screening was conducted by targeted next-generation sequencing (T-NGS), and bioinformatics analysis was performed to analyze the underline mechanisms.Results:The medium onset age of hypoparathyroidism of the 5 patients was 0.5 (0.1, 1.3) years old, and the time duration from onset to confirmed diagnosis of hypoparathyroidism and hypoparathyroidism- deafness-renal dysplasia syndrome was (7.0±5.2) years and (15.0±5.4) years, respectively. The clinical manifestations included carpopedal spasm accompanied by seizures (5 cases), basal ganglia calcification (5 cases), cataract (1 case), deafness (4 cases), and renal malformations or absence (2 cases). The blood calcium and blood parathormone(PTH) before treatment was (1.65±0.31) mmol/L and (4.64±2.63) ng/L, respectively. The 5 patients carried different heterozygous mutations in GATA3 gene, which caused nonsense mutations, frameshift mutations and splice site mutations, respectively. All the GATA3 gene mutations of the 5 patients are classified as pathogenic or likely pathogenic by the Clin Var database and American College of Medical Genetics and Genomics(ACMG).Conclusions:Attention should be paid to genetic diseases in patients with childhood-onset hypoparathyroidism. The possibility of hypoparathyroidism-deafness-renal dysplasia syndrome should be considered in hypoparathyroidism patients with hearing loss or renal dysplasia. GATA3 gene screening is highly recommended for the confirmation of the diagnosis.

Thoracopagus: Autoptic and radiologic study of 2 cases

Conjoined twins are a very rare complication of monozygotic twinning, most common being thoracopagus. Here we report about two cases of thoracopagus male twins illustrating the autopsy details of one case and the prenatal magnetic resonance imaging (MRI) details of another case. While the first case was misdiagnosed as separate twins on antenatal USG, only to be later confirmed as thoracopagus twins after birth, the antenatal MRI done in the second case helped in accurate detection of thoracopagus twins. Bilateral peripheral cortical cysts with dysplasia was noted in one of the twins of the first case, which has not been reported earlier in conjoint thoracopagii. Early prenatal diagnosis of conjoined twins is essential for better counselling of parents regarding post natal surgical management or termination of pregnancy. Importance of prenatal MRI for accurate detection of these cases is thereby highlighted.

Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care Unit

Objective: To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis andmanagement in the neonatal ICU. Methods: A retrospective, medical chart review wasconducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7years. Besides demographic data and diagnostic findings, the results of medical and/orsurgical interventions done by treating neonatologist were recorded. Results: 88bronchoscopies were performed in 83 neonates, of which 37 were done throughendotracheal tube. Indications included persistent need for mechanical ventilation (32),persistent atelectasis (21), and stridor (27). Most common airway anomalies diagnosedincluded tracheobronchomalacia (20), laryngomalacia (18), subglottic stenosis (7), choanalatresia (4), laryngeal cleft (4), and tracheoesophageal fistula (4). Surgical interventions wereundertaken in 17 cases (9 tracheostomies and 2 cases of slide tracheoplasty). Conclusion:Flexible fiberoptic bronchoscopy can be beneficial for the diagnosis and management ofneonates with persistent or undiagnosed respiratory problems.

Detección de mutaciones del gen de HNF1B en niños con malformaciones congénitas renales y del tracto urinario / Detection of mutations of the HNF1B gene in children with congenital anomalies of the kidney and urinary tract

Resumen: Introducción: Las anomalías congénitas del riñón y del tracto urinario se originan de alteraciones genéticas, en su mayoría desconocidas. Las mutaciones en el gen que codifica para el factor hepatocitario nuclear 1B (HNF1B), son la causa monogénica más frecuentemente descrita. Se desconocen datos en Chile y Latinoamérica. Objetivo: Determinar la presencia de variantes del gen HNF1B en niños chilenos con anomalías congénitas del riñón y/o tracto urinario y sus características clínicas. Pacientes y Mé todo: Estudio descriptivo con pacientes entre 10 meses y 17 años, consultantes en Unidad de Nefrología Hospital Luis Calvo Mackenna, período abril - diciembre 2016, portadores de displasia renal quística, displasia/hipoplasia renal no quística y/o riñón en herradura. Se determinaron variantes de HNF1B mediante secuenciación de exones 1, 2, 3 y 4; previa extracción y amplificación de DNA. Se utilizaron enzimas de restricción para definir si variantes eran homo o heterocigotas. Familiares di rectos de casos índices se estudiaron con secuenciación del exón afectado. Resultados: Se incluyeron 32 pacientes, 43,75% varones, mediana edad 11 años. El 65,6% displasia/hipoplasia renal no quística, 31,25% displasia renal quística y 3,15% riñón en herradura. En 2 pacientes (6,25%) se detectó una misma variante genética heterocigota en exón 4, posición 1027 (C1027T), no descrita anteriormente. El estudio de familiares determinó la variante en 3 de 5 individuos, todos sin anomalías nefrouro- lógicas congénitas. Conclusiones: Confirmamos la presencia de una variante genética heterocigota del gen HNF1B, no descrita previamente, dando inicio a la búsqueda de este tipo de mutaciones en nuestro medio, lo cual nos permite aproximarnos al conocimiento de causalidad, determinación de compromiso extrarrenal y consejo genético.

Abstract Introduction: Congenital anomalies of the kidney and urinary tract are caused by genetic alterations mostly unknown. Mutations in the gene that codes for hepatocyte nuclear factor 1B (HNF1B) are the most frequently described monogenic causes. Data are unknown in Chile and Latin America. Objective: To determine the presence of variants of the HNF1B gene in Chilean children with conge nital anomalies of the kidney and/or the urinary tract and their clinical characteristics. Patients and Method: Descriptive study with children aged 10 months to 17 years, patients of the Calvo Mackenna Hospital Nephrology Unit, with cystic renal dysplasia, non cystic renal dysplasia/hypoplasia, horses hoe kidney between April and December 2016. HNF1B variants were determined by sequencing of exons 1, 2, 3 and 4 after DNA extraction and amplification. Restriction enzymes were used to define if the variants were homo or heterozygous. Direct family members of index cases were studied with sequencing of the affected exon. Results: 32 patients were included, 43.75% males, median age 11 years. 65.6% of them had non-cystic renal dysplasia, 31.25% cystic renal dysplasia, and 3.15% hor seshoe kidney. In two patients (6.25%) the same heterozygous genetic variant was detected in exon 4, position 1027 (C1027T), not previously described. The study of relatives found the same variant in three out of five individuals, all without congenital nephro-urological anomalies. Conclusions: We confirmed the presence of a not previously described heterozygous genetic variant of the HNF1B gene. This work initiates the search for this type of mutations in our region which allows us to ap proach the knowledge of causality, determination of extrarenal involvement, and genetic counseling.

A Unique Genomic Variant of HDR Syndrome in Newborn

Background: HDR syndrome (also known as Barakat syndrome) is a rare genetic disorderdue to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3)gene. Case Characteristics: A male preterm infant presented with multiple dysmorphicfeatures characterized by small for gestational age, hypognathia and facial abnormalities.Observation: Investigations revealed hypocalcemia and low parathyroid hormone levelsand bilateral sensorineural deafness. Outcome: Chromosomal microarray analysisrevealed a combination of deletion on chromosome 10p (10p15.3p14) with loss of GATA3gene and duplication of chromosome 20p (20p13p12.3) as a result of unbalanced 10:20translocation. Message: Detecting this syndrome at neonatal age is very important becauseit allows early intervention to minimize future clinical problems.

Imaging diagnosis of uterus duplication combined with renal dysplasia / 中国医学影像技术

Objective To observe imaging features of uterus duplication combined with mesonephric duct dysplasia related abnormalities.Methods Imaging data of 17 female with uterus duplication and renal dysplasia were retrospectively analyzed.Seven patients underwent CT and 10 patients underwent MR scanning.Results The basic abnormalities in 17 patients were uterus duplication combined with unilateral renal-ureter dysplasia with/without other associated malformation which were further classified as follows:①7 patients presented as basic abnormalities without other associated malformations,include 5 (CT diagnosed 1,MR diagnosed 4) with uterus duplex and unilateral renal-ureter agenesis,2 (CT 1,MR 1) with uterus bifidus and unilateral renal-ureter dysplasia;②2 patients (CT 1,MR 1) presented as basic abnormalities accompanied with ectopic ureter orifice,uterus duplex and unilateral renal dysplasia with ectopic ureter orifice opening in vagina;③5 patients (CT 3,MR 2) of Herlyn-Werner-Wunderlich syndrome presented as uterus duplication,oblique vagina septum as well as unilateral renal-ureter dysplasia,which shown as uterus duplex,oblique vaginal septum with hematocolpos,also unilateral renal-ureter agenesis;④2 patients presented as basic abnormalities accompanied with mesonephric residual cyst,CT showed one with uterus duplex and unilateral renal-ureter agenesis with ipsilateral mesonephric residual cyst,MRI showed as the other one with Herlyn-Werner-Wunderlich syndrome combined with mesonephric residual cyst opening in vagina;⑤MRI showed 1 patient with basic abnormalities and a nephrogenic adenoma,which demonstrated as uterus duplex combined with left renal-ureter agenesis,and a tumor on the left wall of bladder accompanied with endometriosis.Conclusion Further classification into 5 types from simple to complex based on uterus duplication combined with unilateral renal-ureter dysplasia with/without other associated malformations is helpful to the diagnosis and treatment of these abnormalities.

Renal developmental retardation and the underlying mechanism induced by prenatal caffeine exposure in female fetal rats / 中国药理学通报

Aim To explore the effects of prenatal caf-feine exposure (PCE) on fetal renal growth retardation and corticosterone on the gene expression of metanephric mesenchyme stem cells.Methods Pregnant Wistar rats were administered with caffeine (30,120 mg ·kg-1) from gestational day 9 to 20.Female fetal kidney samples were collected for morphological observation and gene expression examination.The metanephric mesenchyme stem cells were harvested for cell culture,and renal related genes were detected after the treatment of corticosterone with different concentrations (250,500,1 000 μg · L-1) for 24 hours.Results Compared with the control group,the fetal kidneys in the PCE group displayed an enlarged Bowman's space and a shrunken glomerular tuft,accompanied with the repression of the gene expression of glial-cell-line-derived neurotrophic factor/tyrosine kinase receptor (GDNF/c-Ret) signaling pathway.The GDNF/c-Ret signaling pathway and angiotensin Ⅱ receptor type 1 (AT1R)/AT2R expression of metanephric mesenchyme stem cells also decreased in corticosterone groups.Conclusions PCE may induce dysplasia of female fetal kidneys.The potential mechanism is related to the repression of the gene expression of AT1R/AT2R and GDNF/c-Ret signaling pathway by PCE mediated by corticosterone in utero.

Ureterocalycostomy - final resort in the management of secondary pelvi-ureteric junction obstruction: our experience

ABSTRACT: Ureterocalycostomy can be performed in patients in whom desired methods of treating secondary PUJ (Pelvi-Ureteric Junction) obstructions either failed or could not be used. In our study, one child and two adults in whom one redo-ureterocalycostomy and two ureterocalycostomies were performed for severely scarred PUJ. The causes for secondary PUJ obstruction were post-pyelolithotomy in one case, post-pyeloplasty and ureterocalycostomy for PUJ obstruction in the second patient and the third patient had long upper ureteric stricture post-ureteropyeloplasty due to tuberculosis. In all these cases ureterocalycostomy proved to be salvage/final resort for preserving functional renal unit

High-pressure balloon assessment of pelviureteric junction prior to laparoscopic "vascular hitch"

ABSTRACT Aim To assess if calibration of the ureteropelvic junction (UPJ) using a high-pressure balloon inflated at the UPJ level in patients with suspected crossing vessels (CV) could differentiate between intrinsic and extrinsic stenosis prior to laparoscopic vascular hitch (VH). Materials and Methods We reviewed patients with UPJO diagnosed at childhood or adolescence without previous evidence of antenatal or infant hydronephrosis (10 patients). By cystoscopy, a high-pressure balloon is sited at the UPJ and the balloon inflated to 8-12 atm under radiological screening. We considered intrinsic PUJO to be present where a ‘waist’ was observed at the PUJ on inflation of the balloon and a laparoscopic dismembered pyeloplasty is performed When no ‘waist’ is observed we considered this to represent extrinsic stenosis and a laparoscopic VH was performed. Patients with absence of intrinsic PUJ stenosis documented with this method are included for the study. Results Six patients presented pure extrinsic stenosis. The mean age at presentation was 10.8 years. Mean duration of surgery was 99 min and mean hospital stay was 24 hours in all cases. We found no intraoperative or postoperative complications. All children remain symptoms free at a mean follow up of 14 months. Ultrasound and renogram improved in all cases. Conclusion When no ‘waist’ is observed we considered this to represent extrinsic stenosis and a laparoscopic VH was performed. In these patients, laparoscopic transposition of lower pole crossing vessels (‘vascular hitch’) may be a safe and reliable surgical technique.

A Case of Secondary FSGS due to Chronic Chloride Diarrhea

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease that is difficult to diagnose. CLD requires early treatment to correct electrolyte imbalance and alkalosis and to prevent severe dehydration. Renal injury is clearly associated with defective electrolyte balance induced by CLD, particularly during the first months or years of life. A 7-year-old boy was diagnosed with CLD following detection of a homozygous mutation (c.2063-1G>T) in SLC26A3 at 6 months of age. During treatment with electrolyte supplements, mild proteinuria was detected at 8 months of age, and is still present. Renal biopsy showed the presence of focal renal dysplasia, with metaplastic cartilage and mononuclear cell infiltration, calcification, and fibrosis in the interstitium. Up to two-thirds of the glomeruli exhibited global obsolescence, mostly aggregated in the dysplastic area. In nondysplastic areas, the glomeruli were markedly increased in size and severely hypercellular, with increased mesangial matrix, and displayed segmental sclerosis. The marked glomerular hypertrophy with focal segmental glomerulosclerosis suggested a compensatory reaction to the severe nephron loss or glomerular obsolescence associated with renal dysplasia, with superimposed by CLD aggravating the tubulointerstitial damage.

Nefrectomia videolaparoscópica em Graxaim-do-campo (Pseudalopex gymnocercus) com displasia renal / Laparoscopic nephrectomy in Pampas fox (Pseudalopex gymnocercus) with renal dysplasia

Graxains-do-campo habitam o centro-leste da América do Sul, desde o sudeste do Brasil e leste da Bolívia. A displasia renal compreende um espectro de anomalias e é frequentemente relatada em cães de diversas raças, sendo a maioria dos relatos achados de necropsia. A maior parte das doenças renais congênitas nos cães apresenta caráter progressivo, portanto o tratamento é limitado e direcionado a fim de retardar a progressão da doença renal estabelecida. No presente relato é descrita a realização de nefrectomia laparoscópica em graxaim-do-campo (Pseudalopex gymnocercus) com displasia renal. Suspeitou-se de doença no rim direito por meio de ultrassonografia e urografia excretora. Para o procedimento cirúrgico foram utilizados três portais (10, 10, 5mm), endoscópio rígido de 10mm/0(0) e clipes para hemostasia dos vasos renais. A técnica cirúrgica utilizada neste canídeo selvagem foi semelhante à usada em cão doméstico, devido à escassez de relatos em cirurgias em graxaim e a inexistência de descrições de nefrectomia videolaparoscópica em graxaim-do-campo. O animal foi acompanhado por um período de 30 dias pós-cirurgia sem a ocorrência de complicações. O presente relato demonstra que a técnica proposta foi adequada para a realização de nefrectomia videolaparoscópica em Graxaim-do-campo...

Pampas fox (Pseudalopex gymnocercus) inhabits east-central South America, from southern Brazil to eastern Bolivia. The renal dysplasia comprises a spectrum of abnormalities and is often reported in dogs of various breeds; but this disease reports involve mostly necropsy findings. Congenital renal diseases in dogs have a progressive character, so that treatment is limited and directed to retard the disease. This report describes a laparoscopic nephrectomy in pampas fox with renal dysplasia. Right kidney disease was suspected by ultrasound and intravenous urography. For the surgical procedure we used three portal accesses (10, 10, 5mm), rigid endoscope 10mm/0(0) and clips for hemostasis of the renal vessels. Due the absence of reports of laparoscopic nephrectomy in pampas fox and scarcity of surgical techniques for this species, the operative technique used was similar to that used in the domestic dog. The pampas fox was monitored for 30 days after surgery without the occurrence of complications. This report demonstrates that the proposed technique is appropriate to perform laparoscopic nephrectomy in pampas fox...

Unilateral noncystic renal dysplasia in a Sprague Dawley rat / 동물의과학연구지

Renal dysplasia is a developmental disorder of the renal parenchyma involving anomalous differentiation. It is characterized by persistent metanephric ducts surrounded by primitive mesenchyme, fetal or immature glomeruli, fetal or immature tubules, interstitial fibrosis, and dysontogenic metaplasia involving tissues such as cartilage. Renal dysplasia has been rarely reported in rats. Here, we observed a small left kidney in a rat used in a short-term repeat toxicity study. The rat showed no clinical signs throughout the study. All parameters, including those reflecting kidney functions, were normal upon hematological examination and urinalysis. Grossly, the kidney was small (5 x 8 mm) and its surface appeared normal. Histological examination revealed that the cortex and medulla were poorly demarcated and contained immature/atrophic glomeruli, immature renal tubules, and mesenchymal cells. The cortex contained immature glomeruli, atrophic glomeruli with cystic dilatation of Bowman's capsular space, and some atypical tubules. Primitive metanephric tubules in the medulla were larger in diameter than normal collecting ducts, lined by a tall columnar epithelium with pale cytoplasm and basal nucleus, and surrounded by loose mesenchymal cells. Occasional tubules contained pale eosinophilic homogenous material in the lumen. Thus, this was diagnosed as a case of renal dysplasia on the basis of histologic features and is the first reported case of renal dysplasia in Sprague Dawley rats.

Displasia renal multiquística, ¿tratamiento conservador o nefrectomía?: is it appropriate to follow the conservative treatment or nephrectomy? / Multicystic renal dysplasia

Introducción: la displasia renal multiquística es una anomalía relativamente frecuente en la que aún se mantienen algunas discrepancias en la conducta médica a seguir. Objetivos: analizar la evolución de los quistes en un grupo de pacientes con diagnóstico prenatal de esta anomalía, en los que se siguió una conducta médica conservadora y expectante. Métodos: durante el período comprendido entre el 1º de enero de 1996 y el 30 de junio de 2011, se recibieron en la consulta de Nefrología del Hospital Pediátrico Universitario "William Soler", 22 recién nacidos o lactantes, en los que, durante el seguimiento de un embarazo normal, se diagnosticó una displasia renal multiquística u otra anomalía, que al estudiarse después del nacimiento, se demostró la displasia. En todos los pacientes se realizó ultrasonido renal al llegar al hospital y se hizo gammagrafía estática (99m tecnecio-DMSA) para precisar función renal del lado afectado y valorar las características del riñón contralateral. En todos los casos se siguió una conducta conservadora y expectante, y en 21 de estos niños se logró el objetivo de este estudio. Resultados: hubo predominio del sexo masculino en 60 %, del riñón izquierdo en 77 % y la forma "típica" de displasia en el 80 %. En 6 pacientes se encontraron otras anomalías asociadas. En 3 fetos se presentó involución prenatal de los quistes, la involución total entre 3 y 72 meses se observó en 9 (50,0 % de los estudiados después del nacimiento), mientras hubo involución parcial en 6 (33,3 %) y no hubo variación en 3 (16,7 %). Conclusiones: el tratamiento conservador debe ser la elección inicial en todo paciente con displasia renal multiquística, ya que la involución total se logra en la mayoría de los casos en un período relativamente corto.

Introduction: multicystic renal dysplasia is a relatively frequent anomaly that still arouses some discrepancies about the medical behaviour to be followed. Objectives: to analyze the evolution of cysts in a group of patients prenatally diagnosed with this anomaly, with whom a conservative and expectant medical behaviour was adopted. Methods: from January 1st, 1996 to June 30th, 2011, the nephrology service of "William Soler" university pediatric hospital assisted 22 newborns and infants, who were diagnosed with multicystic renal dysplasia or other anomaly during the normal pregnancy follow-up, but later dysplasia was confirmed after birth. All these patients underwent renal ultrasound on arrival at hospital, and then static gammagraphy (99m technetium-DMSA) to see the renal function of the affected side and to assess the characteristics of the contralateral kidney. A conservative and expectant behaviour was observed for all the cases; the objective of this study was attained in 21 of these children. Results: males prevailed in 60 % of patients, left kidney was affected in 77 % of cases and the "typical" form of dysplasia was present in 80 % of them. Six infants presented with other related anomalies. There was prenatal regression of cysts in three children, total regression ranging 3 to 72 months in 9 infants (50 % of the infants under study after birth) whereas partial regression occurred in 6 cases (33.3 %) and 3 did not change their condition (16.7 %). Conclusions: the conservative treatment should be the initial choice for every patient with multicystic renal dysplasia since total regression is possible in most of cases in a relatively short period of time.

Magnetic Resonance Urography in Diagnosing Congenital Renal Dysplasia in Children / 实用放射学杂志

Objective To approach the value of MR urography (MRU) in diagnosis of congenital renal dysplasia in children.Methods 13 children with congenital renal dysplasia and renal inadequacy were examined by routine MRI and MRU with heavy T_2 weighted single stimulation fast spin echo sequences.Results The congenital atopic dysplastic rens located at pelvis in one case and at below nephritic pit in one case were not detected by MR imaging and original MRU images,respectively.Multicystic dysplastic kidney could be well showed by MRU MIP images, but the cases with clubbed renal pelvis were not well demonstrated by MRU. All cases and the complications were correctly diagnosed by routine MRI, original MRU and MRU MIP images.Conclusion MR urography in combination with routine MRI is of important value in diagnosing congenital renal dysplasia in children.

Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses.

Multicystic dysplastic kidney - A need for conservative and long term approach.

Objective. We retrospectively studied our cases of Multicystic Dysplastic Kidney (MCDK). The review was aimed at identifying the pattern of the disease in Indian Scenario and the required management thereof. Methods. We studied the clinical, radiological and nuclear scan findings of 22 patients with unilateral MCDK. They were diagnosed and/or treated in our unit from 1999 to 2007. The diagnosis was achieved by Ultrasound and further confirmed by DMSA scans. Other ancillary investigations like Micturating cystourethrogram were done if indicated. These patients were followed and followup investigations consisted of renal ultrasound, blood pressure measurement, and urinalysis and blood biochemistry. Results. A total of 22 patients (18 boys and 4 girls) with unilateral MCDK were investigated and followed for a mean period of 41 months. MCDK was detected on antenatal ultrasound only in 12(55%) and postnatally in 10(45%) babies. Mean age for postnatal diagnosis was 20 months. Follow up ultrasound revealed complete involution of MCDK in 3 patients and partial regression in 11 patients. The size of dysplastic kidney was unchanged in 4 patients and a further 4 patients underwent nephrectomy. Indications of nephrectomy were parental anxiety in 2, hypertension in 1 and palpable mass in 1. Conclusion. Large proportion (45%) of patients in presented series are diagnosed post natally contrary to western world where more than 80% are diagnosed antenatally. Uncomplicated isolated MCDK carry good prognosis with nephrectomy required in only a few patients. Association with other urological anomalies in ipsilateral/contralateral genitourinary tract is important to identify as they have worse outcome in terms of ultimate renal function. All patients with simple/complex unilateral MCDK should be advised long term follow up for the possible development of hypertension and/or hyper infiltration injury.

Displasia renal multiquística segmentaria: primeros casos registrados en Cuba / Segmental multicystic renal dysplasia: first cases registered in Cuba

La displasia renal multiquística segmentaria es un subtipo raro de displasia renal que puede confundirse prenatalmente con una displasia multiquística total, un doble sistema obstruido o una hidronefrosis por estenosis de la unión pieloureteral. Se presentan los casos de dos niñas con esta variedad de displasia. En una de ellas la imagen del ultrasonido maternofetal, e incluso el primer ultrasonido renal, se confundió con una hidronefrosis. En la otra, el ultrasonido de las 22 semanas de gestación detectó quistes renales y el primer ultrasonido renal antes de egresar de la maternidad hizo sospechar esta variedad de displasia. Se propone el control imagenológico expectante, sin realizar exéresis de la masa quística, pero atentos a las posibles complicaciones y con el consentimiento informado de los padres.

Segmental multicystic renal dysplasia is a rare subtype of renal dysplasia that may be mistake with a total multicystic dysplasia, an obstructed double system or a hydronephrosis by stenosis of pyeloureteral junction. Authors present cases of two girls presenting with this variety of dysplasia. In one of them maternal-fetal US image, and even the first renal US, was confounded with a hydronephrosis. In the other case, US of 22 weeks of pregnancy sowed renal cysts, and in the first renal US before admission in unit, raise suspicion of this variety of dysplasia. We propose the expectant imaging control, without performing exeresis of cystic mass, but we must to be attentive to possible complications, and with informed consent of parents.

Complejo malformación-obstrucción uretral: diagnóstico ecográfico prenatal / Complex uretral malformation-obstruction: prenatal ultrasonography diagnostic

Presentamos un caso de síndrome de Prune-Belly que se manifestó en un feto de sexo masculino a las 20 semanas de edad gestacional como megavejiga, megauretra, dilatación piélica bilateral y aumento de circunferencia abdominal. El complejo malformación-obstrucción uretral se refiere a la secuencia: • obstrucción uretral • megavejiga que, a su vez, produce: a) distensión abdominal con subsiguiente atrofia o hipoplasia de los músculos abdominales o abdomen en ciruela pasa; b) imposibilidad de descenso testicular o criptorquidia; c) dilatación ureteral por presión retrógrada o por reflujo desde la vejiga; d) displasia renal. La tríada de malformaciones urinarias, ausencia o hipoplasia de los músculos abdominales y criptorquidia bilateral se conoce con el nombre de síndrome de Prune-Belly o síndrome de Eagle-Barrett.

We present a case of Prune Belly Syndrome in a male fetus at 20 weeks of gestation with renal pelvis dilatation, massive bladder, mega urethral and an increase of the abdominal circumference. The complex urethral malformation-obstruction is about this sequence: urethral obstruction and massive bladder distention that causes: a) abdominal distention with subsequent atrophy or hypoplasia of abdominal muscles or Prune-Belly; b) impossibility of testicular reduction or cryptorchidism; c) megaureter by retrograde pressure or reflux from bladder; d) renal dysplasia. The triad of urinary malformations, absence or hypoplasia of abdominal muscles and cryptorchidism bilateral is knows as Prune-Belly syndrome or Eagle-Barrett syndrome.