DOCSLIB.ORG

Congenital Renal Tract Abnormalities: a Neonatal Perspective

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Congenital Renal Tract Abnormalities: a Neonatal Perspective REVIEW © 2017 SNL All rights reserved Congenital renal tract abnormalities: a neonatal perspective Congenital renal and urinary system malformations are among the commonest congenital anomalies. They represent a wide spectrum of disorders with varying degrees of postnatal clinical significance. Many of these conditions can be detected on antenatal ultrasonography as part of the 18-20 week anomaly scan. This article will cover the postnatal management of renal dilatation and other commonly seen anomalies. 1 Pallavi Prasad he kidneys and urinary tract are the ■ Renal pelvic dilatation most common sites for congenital MBChB, MRCPCH, BMS BSc T ■ Congenital renal anomalies ST5 Paediatric Nephrology abnormalities and can account for 15-20% of all prenatally detected congenital • Renal agenesis 1 • Ectopic kidney Catherine Agar anomalies.1 Congenital renal and urinary - Pelvic kidney MBChB, MRCPCH system malformations are seen in 3-4% of - Crossed renal ectopia ST3 Community Paediatrics the population.2 - Horseshoe kidney Various conditions can result in renal Cath Harrison • Duplex kidney malformations seen on an antenatal BMedSci, BM BS, DTM&H, FRCPCH anomaly scan. Neonatal healthcare ■ Congenital cystic kidney disease Consultant Neonatologist1 and Consultant professionals should be aware of congenital • Multicystic dysplastic kidney (Neonatal Lead)2 renal abnormalities as early postnatal • Dysplastic kidney (renal dysplasia) ■ Posterior urethral valve (PUV) 1Leeds Teaching Hospitals NHS Trust intervention and appropriate long-term 2Embrace Transport Service follow-up will ensure prompt diagnosis FIGURE 1 Renal anomalies that are and management, avoid unnecessary commonly encountered in neonates. investigations and minimise renal damage. This article will review the postnatal management of the renal anomalies seen Kidney in FIGURE 1. Anatomy of the urinary system The urinary system produces, stores and removes urine from the body. The kidneys Keywords make urine by filtering the blood to remove waste products. From the kidneys Ureter kidney; renal dilatation; congenital Pelviureteric the urine flows through the ureters to the abnormality; neonatal junction urinary bladder and then to the outside of Bladder Key points the body along the urethra during Prasad P., Agar C., Harrison C. Congenital urination. The basic anatomy of the Vesicoureteric renal tract abnormalities: a neonatal urinary tract can be seen in FIGURE 2. junction Urethra perspective. Infant 2017; 13(3): 100-104. 1. The kidneys and urinary tract are the Renal pelvic dilatation FIGURE 2 most common sites for congenital Fetal renal pelvic dilatation is a common Anatomy of the urinary system. abnormalities. anomaly detected on antenatal scanning, 2. Detection of renal anomalies during an with an incidence of 0.5-1% in pregnancy.3 significant morbidity. Renal pelvic antenatal scan enables prompt The presence of renal pelvic dilatation can dilatation can be classified according to the diagnosis and management in the indicate diseases such as structural NHS fetal anomaly scan national standards postnatal period. anomalies, obstruction or vesicoureteric (FIGURE 3).3 3. A robust screening pathway is essential reflux (VUR – an abnormal backward flow Renal pelvic dilatation is usually detected to ensure early detection, avoid of urine from the bladder to the upper on the 20-week anomaly scan with some unnecessary investigations and reduce urinary tract).3 Although mostly a benign centres offering a further serial scan at parental anxiety. condition, it can in some cases cause 30-36 weeks’ gestation.5,7 Evidence suggests 100 VOLUME 13 ISSUE 3 2017 infant REVIEW that there is uncertainty in how fetal renal Grade Renal pelvic diameter disruption in the metanephric stage in the pelvic dilatation reflects postnatal abnor- first few weeks of gestation. An important malities but it is generally agreed that there Normal <7mm differential diagnosis for unilateral agenesis is an undiagnosed ectopic kidney.11 Renal is a greater likelihood of postnatal Mild 7-10mm problems with increasing pelvic dilatation.3,8 agenesis can be diagnosed on the 20-week It is therefore essential to have a robust Moderate 10-15mm antenatal anomaly scan and/or during investigations for urinary tract infections. screening pathway to identify those infants Severe >15mm with significant renal problems to ensure In approximately 50% of children with early intervention and long-term follow- FIGURE 3 Renal dilatation grading by unilateral agenesis there is an association 3-6 up, yet avoid unnecessary investigations. anteroposterior pelvic diameter. with other congenital abnormalities of the An example of a screening pathway is urinary tract: ■ shown in FIGURE 4. ■ Renal dilatation >10mm with or with- VUR occurs in 28% of children with uni- Renal pelvic dilatation should be out other abnormalities. The infant lateral agenesis ■ managed in the following way: will require prophylactic antibiotics pelviureteric junction obstruction ■ Uncomplicated renal dilatation ≤7mm. (trimethoprim) from birth. Ideally ultra- (PUJ – blockage at the junction where the If there are no other associated renal sound will be performed before dis- ureter attaches to the kidney) and/or abnormalities (such as duplex kidney) no charge. Follow-up is required in the vesicoureteric junction obstruction (VUJ postnatal investigations are required. neonatal or urology clinic. – blockage where the ureter meets the ■ Uncomplicated renal dilatation bladder) occur in 20% of children with 10,11 7-10mm. The infant does not require Congenital renal anomalies unilateral agenesis. Seventy per cent of children with antibiotics. The first renal ultrasound Unilateral agenesis scan should take place at one month of unilateral agenesis have associated genital Unilateral agenesis – the absence of a single age; it is important the scan is not anomalies that can be either minor or kidney – has an incidence of approximately major, such as an absent gonad on the delayed. Follow-up is necessary after the 9,10 one in 1,000 to one in 3,200 live births. ipsilateral side.6,12 Long-term outcomes can one-month scan if the abnormalities Renal agenesis occurs after a major persist. be varied and dependent on the quality of Guidelines for the investigation of prenatal renal pelvic dilatation Renal pelvis 7-10mm Renal pelvis >10mm OR Antenatal Ureters normal dilated ureters (20 week scan) +/- other suspicious features Ultrasound scan before discharge + antibiotics No antibiotics Bilateral dilatation in a boy Early postnatal Pelvis <15mm Pelvis ≥15mm OR Urgent MCU Ureters and calyces dilated calyces OR ureter(s) (Valves?) normal Urgent surgical Pelvis and calyces only Dilated ureters OR referral Probable PUJ thickwalled bladder 1 Month Ultrasound scan Ultrasound scan + No valves Ultrasound + prompt MCU Unexpected MAG3 renogram Normal scan Pelvis 6-14mm* No reflux Mild reflux valves pelvis ≤5mm Stop antibiotics VUJ? (Grade 1) Significant reflux Ultrasound scan (grades 2-5) Static situation* 3 Months or residual Reducing dilatation dilatation ≥10mm pelvis <10mm Outcome Discharge Surgical referral Monitor/treat Refer nephrology *If pelvis increases ≥15mm Ureters OR calyces dilated – investigate as significant FIGURE 4 The Leeds Teaching Hospital’s neonatal guideline for investigation of prenatal renal pelvic dilatation.6 Key: MCU = micturating cystourethrography (used to examine whether reflux is occurring during urination), PUJ = pelvicureteric junction obstruction, MAG3 = MAG3 renogram (a scan to assess whether the kidneys are draining properly into the bladder), VUJ = vesicoureteric junction obstruction. infant VOLUME 13 ISSUE 3 2017 101 REVIEW the existing kidney. If there is normal renal VUR. They can be associated with non- cases.10 Renal calculi can also occur in function and no other associated abnor- renal anomalies (cardiac, skeletal) or part approximately 20-60% of patients due to malities the outcome is excellent.5,10,12 of syndromes such as in CHARGE the presence of hydronephrosis (a build-up syndrome and VACTERL association.15, 16 of urine leading to distension and dilation Action Pelvic kidneys are the commonest form of the kidney) or obstruction causing Infants should have a postnatal ultrasound of renal ectopia (90%) with a left-sided urinary stasis and infection. PUJ scan as an out-patient within the first predominance.5 The majority of patients obstruction is seen due to the high inser- month of life to measure the size of the with this are asymptomatic. tion of the ureter into the renal pelvis and single kidney and to look for other renal In crossed renal ectopia, one kidney displacement of the isthmus.14 Other abnormalities. Small ectopic kidneys and crosses the midline and its ureter re-crosses complications include: trauma to the pelvic kidneys can be difficult to visualise the midline to fuse with the bladder on the isthmus, an increased risk of Wilms’ on antenatal scans, therefore a postnatal correct side. In the majority of cases tumour and hypertension secondary to scan is indicated to verify the antenatal (85-90%) the two kidneys are fused, most renal cortical scarring.10 findings. There may also be evidence of commonly the lower pole of the normal Action compensatory renal hypertrophy (>50th kidney with the upper pole of the ectopic centile for age and height) on the kidney as it sits inferiorly, medially and Infants should have a postnatal ultrasound contralateral normal kidney, which is a abnormally rotated.12, 17 This condition is to confirm the
Load more

Recommended publications
  • What a Difference a Delay Makes! CT Urogram: a Pictorial Essay
    Abdominal Radiology (2019) 44:3919–3934 https://doi.org/10.1007/s00261-019-02086-0 SPECIAL SECTION : UROTHELIAL DISEASE What a diference a delay makes! CT urogram: a pictorial essay Abraham Noorbakhsh1 · Lejla Aganovic1,2 · Noushin Vahdat1,2 · Soudabeh Fazeli1 · Romy Chung1 · Fiona Cassidy1,2 Published online: 18 June 2019 © This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2019 Abstract Purpose The aim of this pictorial essay is to demonstrate several cases where the diagnosis would have been difcult or impossible without the excretory phase image of CT urography. Methods A brief discussion of CT urography technique and dose reduction is followed by several cases illustrating the utility of CT urography. Results CT urography has become the primary imaging modality for evaluation of hematuria, as well as in the staging and surveillance of urinary tract malignancies. CT urography includes a non-contrast phase and contrast-enhanced nephrographic and excretory (delayed) phases. While the three phases add to the diagnostic ability of CT urography, it also adds potential patient radiation dose. Several techniques including automatic exposure control, iterative reconstruction algorithms, higher noise tolerance, and split-bolus have been successfully used to mitigate dose. The excretory phase is timed such that the excreted contrast opacifes the urinary collecting system and allows for greater detection of flling defects or other abnormali- ties. Sixteen cases illustrating the utility of excretory phase imaging are reviewed. Conclusions Excretory phase imaging of CT urography can be an essential tool for detecting and appropriately characterizing urinary tract malignancies, renal papillary and medullary abnormalities, CT radiolucent stones, congenital abnormalities, certain chronic infammatory conditions, and perinephric collections.
    [Show full text]
  • Renal Agenesis, Renal Tubular Dysgenesis, and Polycystic Renal Diseases
    Developmental & Structural Anomalies of the Genitourinary Tract DR. Alao MA Bowen University Teach Hosp Ogbomoso Picture test Introduction • Congenital Anomalies of the Kidney & Urinary Tract (CAKUT) Objectives • To review the embryogenesis of UGS and dysmorphogenesis of CAKUT • To describe the common CAKUT in children • To emphasize the role of imaging in the diagnosis of CAKUT Introduction •CAKUT refers to gross structural anomalies of the kidneys and or urinary tract present at birth. •Malformation of the renal parenchyma resulting in failure of normal nephron development as seen in renal dysplasia, renal agenesis, renal tubular dysgenesis, and polycystic renal diseases. Introduction •Abnormalities of embryonic migration of the kidneys as seen in renal ectopy (eg, pelvic kidney) and fusion anomalies, such as horseshoe kidney. •Abnormalities of the developing urinary collecting system as seen in duplicate collecting systems, posterior urethral valves, and ureteropelvic junction obstruction. Introduction •Prevalence is about 3-6 per 1000 births •CAKUT is one of the commonest anomalies found in human. •It constitute approximately 20 to 30 percent of all anomalies identified in the prenatal period •The presence of CAKUT in a child raises the chances of finding congenital anomalies of other organ-systems Why the interest in CAKUT? •Worldwide, CAKUT plays a causative role in 30 to 50 percent of cases of end-stage renal disease (ESRD), •The presence of CAKUT, especially ones affecting the bladder and lower tract adversely affects outcome of kidney graft after transplantation Why the interest in CAKUT? •They significantly predispose the children to UTI and urinary calculi •They may be the underlying basis for urinary incontinence Genes & Environment Interact to cause CAKUT? • Tens of different genes with role in nephrogenesis have been identified.
    [Show full text]
  • Ultrasound Appearance of Congenital Renal Disease: Pictorial Review
    The Egyptian Journal of Radiology and Nuclear Medicine (2014) 45, 1255–1264 Egyptian Society of Radiology and Nuclear Medicine The Egyptian Journal of Radiology and Nuclear Medicine www.elsevier.com/locate/ejrnm www.sciencedirect.com REVIEW Ultrasound appearance of congenital renal disease: Pictorial review Narrotam A. Patel, Pokhraj P. Suthar * Department of Radiology, S.S.G. Hospital, Medical College, Vadodara, India Received 12 April 2014; accepted 27 June 2014 Available online 5 August 2014 KEYWORDS Abstract Congenital renal diseases consist of a variety of entities. The age of presentation and GUT; clinical examination narrow down the differential diagnosis; however, imaging is essential for accu- Renal disease; rate diagnosis and pretreatment planning. Ultrasound is often used for initial evaluation. Computed Congenital; tomography (CT) and MRI provide additional information. Ultrasonography continues to occupy Ultrasonography a central role in the evaluation and detection of congenital renal diseases due to its advantage of rapid scanning time, lack of radiation exposure, cost effective and easy feasibility. Ó 2014 The Egyptian Society of Radiology and Nuclear Medicine. Production and hosting by Elsevier B.V. All rights reserved. Contents 1. Technique. 1256 1.1. Anomalies related to ascent of kidney. 1256 1.1.1. Ectopia . 1256 1.1.2. Crossed renal ectopia . 1256 1.1.3. Horseshoe kidney. 1257 1.2. Anomalies related to the ureteric bud . 1258 1.2.1. Renal agenesis . 1258 1.2.2. Supernumerary kidney . 1258 1.2.3. Duplex collecting system and ureterocele . 1258 1.2.4. Uretero-pelvic junction obstruction . 1259 1.2.5. Congenital megacalyces . 1260 1.2.6. Congenital megaureter .
    [Show full text]
  • Ectopic Kidney
    Ectopic Kidney We normally have two kidneys which each have a single tube (called a ureter) that connects to the bladder. This tube drains urine from the kidneys into the bladder (see below). In some pregnancies, the kidneys do not develop normally. One such variation is known as an ECTOPIC KIDNEY. An ectopic kidney means that the kidney is not in the usual position. You may be told that your baby has an ectopic kidney, during your pregnancy ultrasound scan or after your baby’s birth. You may need to go back to the hospital for further tests during the pregnancy and after birth. You may instead be told your child has an ectopic kidney if he / she has had investigations due to urine tract infections or abdominal pain. About the urinary system The kidneys are part of the urinary system, which gets rid of things that the body no longer needs so that we can grow and stay healthy. The kidneys are bean-shaped organs. They filter blood and remove extra water, salt and waste in urine (wee). Most of us have two kidneys, which are at the back on either side of our spine (backbone), near the bottom edge of our ribs. Other parts of the urinary system are: two ureters– long tubes that carry urine from the kidneys to the bladder bladder– muscular bag that stores urine until we are ready to pass urine urethra– tube that carries urine from the bladder out of the body. <More information about the urinary system and kidneys> Ectopic Kidney About Ectopic kidney Ectopic kidneys are one type of congenital renal anomaly: • ectopic – in an abnormal place or position • congenital – the problem is present at birth • renal – to do with the kidneys • anomaly– different from normal Ectopic kidneys occur due to an abnormality in the way the growing baby’s urinary system is developing while a baby is growing in the uterus (womb).
    [Show full text]
  • Renal Agenesis: Difficulties and Pitfalls of Antenatal Diagnosis in 5
    Scholars International Journal of Obstetrics and Gynecology Abbreviated Key Title: Sch Int J Obstet Gynec ISSN 2616-8235 (Print) |ISSN 2617-3492 (Online) Scholars Middle East Publishers, Dubai, United Arab Emirates Journal homepage: https://saudijournals.com Original Research Article Renal Agenesis: Difficulties and Pitfalls of Antenatal Diagnosis in 5 Cases and Review of the Literature Imane Attar1*, Hekmat Chaara1, Sofia Jayi1, Fatima-Zahra Fdili Alaoui1, Moulay Abdelilah Melhouf1 1Department of Gynecology and Obstetrics II, Chu Hassan II Fes, Morocco DOI: 10.36348/sijog.2021.v04i04.006 | Received: 07.03.2021 | Accepted: 06.04.2021 | Published: 15.04.2021 *Corresponding author: Imane Attar Abstract Renal agenesis is the absence of any trace of kidney, ureter, and therefore the absence of fetal renal function. It constitutes a major field of antenatal screening which presents until now certain limits during ultrasound diagnosis which remains the only accessible, inexpensive and reproducible means of exploration for making the diagnosis with a sensitivity of 85%. The neonatal prognosis is considered better in the unilateral Renal agenesis with functional contralateral kidney, but is always fatal in its bilateral form. The objective of our study is to clarify the ultrasound strategy that must be adopted in antenatal to make the diagnosis while highlighting the technical difficulties that can misdiagnose. An update on the epidemiological and etiopathogenetic nature of the anomaly will also be discussed. Keywords: Renal agenesis; antenatal diagnosis; Topography; prognosis. Copyright © 2021 The Author(s): This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY-NC 4.0) which permits unrestricted use, distribution, and reproduction in any medium for non-commercial use provided the original author and source are credited.
    [Show full text]
  • Congenital Kidney and Urinary Tract Anomalies: a Review for Nephrologists
    REVIEW ARTICLE Port J Nephrol Hypert 2018; 32(4): 385-391 • Advance Access publication 4 January 2019 Congenital kidney and urinary tract anomalies: a review for nephrologists Marina Vieira, Aníbal Ferreira, Fernando Nolasco Nephrology Department, Hospital Curry Cabral, Centro Hospitalar Lisboa Central, Lisboa, Portugal Received for publication: Sep 7, 2018 Accepted in revised form: Dec 7, 2018 ABSTRACT Kidney and urinary tract development disorder are two of the most prevalent congenital malformations and the main cause of chronic kidney disease in pediatric age patients. As such, it is very important that the neph‑ rologist understands these pathologies to improve transition and ensure a good continuity between pediatric and adult nephrological care. The purpose of this article is to present a brief review of congenital anomalies of the kidney and urinary tract (CAKUT). Kidney malformations are classified according to macroscopic and microscopic anatomic features, and are the result of the following abnormal renal developmental processes: malformations of the renal parenchyma, abnor‑ malities of the embryonic migration of the kidneys and abnormalities of the developing urinary collecting system. Keys words: congenital anomalies of the kidneys and urinary tract, dysplasia, ciliopathies, posterior urethral valves, vesicoureteral reflux. INTRODUCTION are more likely to require dialysis6. Kidney malforma‑ tions are classified according to macroscopic and micro‑ Kidney and urinary tract development disorders scopic anatomic features, and
    [Show full text]
  • Diagnosis and Management in Most Frequent Congenital Defects Of
    Prof. dr hab. Anna Wasilewska ~ 10% born with potentially significant malformation of urinary tract, but congenital renal disease much less common 1. Anomalies of the number a. Renal agenesis b. Supernumerary kidney 2. Anomalies of the size a. Renal hypoplasia 3. Anomalies of kidney structure a. Polcystic kidney b. Medullary sponge kidney 4. Anomalies of position • Ectopic pelvic kidney • Ectopic thoracic kidney • Crossed ectopic kidney with and without fusion 5. Anomalies of fusion • Horseshoe kidney • Crossed ectopic kidney with fusion 6. Anomalies of the renal collecting system a. Calcyeal diverticulum b. Ureterpelvic junction stenosis 7. Anomalies of the renal vasculature a. Arteriovenous malformations and fistulae b. Aberrant and accessory vessels. c. Renal artery stenosis The distinction between severe unilateral hydronephrosis and a multicystic dysplastic kidney may be unclear bilaterally enlarged echogenic kidneys, associated with hepatobiliary dilatation and oligohydroamnios suggests autosomal recessive polycystic kidney disease. Simple cysts Autosomal Dominant Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Multicystic Dysplastic Kidney Disease cysts may be › solitary or multiple › unilateral or bilateral › congenital (hereditary or not) or acquired common increasing incidence with age single or multiple few mms to several cms smooth lining, clear fluid no effect on renal function occasionally haemorrhage, causing pain only real issue is distinction from tumour Characterized by cystic
    [Show full text]
  • Renal Anomalies
    We are IntechOpen, the world’s leading publisher of Open Access books Built by scientists, for scientists 4,800 122,000 135M Open access books available International authors and editors Downloads Our authors are among the 154 TOP 1% 12.2% Countries delivered to most cited scientists Contributors from top 500 universities Selection of our books indexed in the Book Citation Index in Web of Science™ Core Collection (BKCI) Interested in publishing with us? Contact [email protected] Numbers displayed above are based on latest data collected. For more information visit www.intechopen.com Chapter 13 Renal Anomalies Alexandru Cristian Comanescu, Florentina Tanase, AlexandruMaria Cristina Comanescu, Cristian Comanescu, Razvan Florentina Cosmin Pana, Tanase, MariaMadalina Barbu Cristina Comanescu, and Nicolae Cernea Razvan Cosmin Pana, MadalinaAdditional information Barbu and is available Nicolae at the Cernea end of the chapter Additional information is available at the end of the chapter http://dx.doi.org/10.5772/intechopen.71925 Abstract This chapter is dedicated to the main renal anomalies detectable by ultrasound. Anomalies of the lower urinary tract will be addressed in a separate chapter. The anomalies pre- sented are renal agenesis, renal development variants, autosomal recessive polycystic kidney disease, multicystic dysplastic kidney disease, autosomal dominant polycystic kidney disease, obstructive cystic dysplasia, pelvis dilatation, renal tumors, and non- chromosomal syndromes associated with renal anomalies. All chapters are structured similar into definition, incidence, pathology, ultrasound findings, differential diagnosis, and clinical facts. Keywords: kidney, anomaly, ultrasound 1. Introduction The present chapter addresses the main renal anomalies. It will be structured on nine sub- jects made to help the reader orientate easily when facing an anomaly in everyday practice.
    [Show full text]
  • 16 the Kidney J
    16 The Kidney J. Charles Jennette FPO FPO FPO FPO CONGENITAL ANOMALIES IgA Nephropathy (Berger Disease) Renal Agenesis Anti-Glomerular Basement Membrane Ectopic Kidney Glomerulonephritis Horseshoe Kidney ANCA Glomerulonephritis Renal Dysplasia VASCULAR DISEASES CONGENITAL POLYCYSTIC KIDNEY DISEASES Renal Vasculitis Autosomal Dominant Polycystic Kidney Disease Hypertensive Nephrosclerosis (Benign Nephrosclerosis) (ADPKD) Malignant Hypertensive Nephropathy Autosomal Recessive Polycystic Kidney Disease Renovascular Hypertension (ARPKD) Thrombotic Microangiopathy Nephronophthisis–Medullary Cystic Disease Cortical Necrosis ACQUIRED CYSTIC KIDNEY DISEASE DISEASES OF TUBULES AND INTERSTITIUM GLOMERULAR DISEASES Acute Tubular Necrosis (ATN) Nephrotic Syndrome Pyelonephritis Nephritic Syndrome Analgesic Nephropathy Glomerular Inflammation and Immune Mechanisms Drug-Induced (Hypersensitivity) Acute Tubulointerstitial Minimal-Change Glomerulopathy Nephritis Focal Segmental Glomerulosclerosis (FSGS) Light-Chain Cast Nephropathy Membranous Glomerulopathy Urate Nephropathy Diabetic Glomerulosclerosis RENAL STONES (NEPHROLITHIASIS AND Amyloidosis UROLITHIASIS) Hereditary Nephritis (Alport Syndrome) OBSTRUCTIVE UROPATHY AND HYDRONEPHROSIS Thin Glomerular Basement Membrane Nephropathy RENAL TRANSPLANTATION Acute Postinfectious Glomerulonephritis MALIGNANT TUMORS OF THE KIDNEY Type I Membranoproliferative Glomerulonephritis Wilms’ Tumor (Nephroblastoma) Type II Membranoproliferative Glomerulonephritis Renal Cell Carcinoma (RCC) (Dense Deposit Disease)
    [Show full text]
  • Congenital Anomalies of Kidney and Ureter
    ogy: iol Cu ys r h re P n t & R y e s Anatomy & Physiology: Current m e o a t Mittal et al., Anat Physiol 2016, 6:1 r a c n h A Research DOI: 10.4172/2161-0940.1000190 ISSN: 2161-0940 Review Article Open Access Congenital Anomalies of Kidney and Ureter Mittal MK1, Sureka B1, Mittal A2, Sinha M1, Thukral BB1 and Mehta V3* 1Department of Radiodiagnosis, Safdarjung Hospital, India 2Department of Paediatrics, Safdarjung Hospital, India 3Department of Anatomy, Safdarjung Hospital, India Abstract The kidney is a common site for congenital anomalies which may be responsible for considerable morbidity among young patients. Radiological investigations play a central role in diagnosing these anomalies with the screening ultrasonography being commonly used as a preliminary diagnostic study. Intravenous urography can be used to specifically identify an area of obstruction and to determine the presence of duplex collecting systems and a ureterocele. Computed tomography and magnetic resonance (MR) imaging are unsuitable for general screening but provide superb anatomic detail and added diagnostic specificity. A sound knowledge of the anatomical details and familiarity with these anomalies is essential for correct diagnosis and appropriate management so as to avoid the high rate of morbidity associated with these malformations. Keywords: Kidney; Ureter; Intravenous urography; Duplex a separate ureter is seen then the supernumerary kidney is located cranially in relation to the normal kidney. In such a case the ureter Introduction enters the bladder ectopically and according to the Weigert-R Meyer Congenital anomalies of the kidney and ureter are a significant cause rule the ureter may insert medially and inferiorly into the bladder [2].
    [Show full text]
  • COL4A1 Mutations As a Potential Novel Cause of Autosomal Dominant CAKUT in Humans
    Human Genetics (2019) 138:1105–1115 https://doi.org/10.1007/s00439-019-02042-4 ORIGINAL INVESTIGATION COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans Thomas M. Kitzler1 · Ronen Schneider1 · Stefan Kohl1 · Caroline M. Kolvenbach1 · Dervla M. Connaughton1 · Rufeng Dai1 · Nina Mann1 · Makiko Nakayama1 · Amar J. Majmundar1 · Chen‑Han W. Wu1 · Jameela A. Kari2 · Sherif M. El Desoky2 · Prabha Senguttuvan3 · Radovan Bogdanovic4 · Natasa Stajic4 · Zaheer Valivullah5 · Monkol Lek6 · Shrikant Mane6 · Richard P. Lifton6,7 · Velibor Tasic8 · Shirlee Shril1 · Friedhelm Hildebrandt1 Received: 5 April 2019 / Accepted: 18 June 2019 / Published online: 22 June 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019 Abstract Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33–34) has been implicated in vesicoureteral refux (VUR), but mutations in COL4A1 have not been reported in CAKUT. We hypothesized that COL4A1 mutations cause CAKUT in humans. We performed whole exome sequencing (WES) in 550 families with CAKUT. As negative control cohorts we used WES sequencing data from patients with nephronophthisis (NPHP) with no genetic cause identifed (n = 257) and with nephrotic syndrome (NS) due to monogenic causes (n = 100). We identifed a not previously reported heterozygous missense variant in COL4A1 in three siblings with isolated VUR. When examining 549 families with CAKUT, we identifed nine additional diferent heterozygous missense mutations in COL4A1 in 11 individuals from 11 unrelated families with CAKUT, while no COL4A1 mutations were identifed in a control cohort with NPHP and only one in the cohort with NS.
    [Show full text]
  • CT Scan Surprise in a Potential Kidney Donor
    Clinical Images in Nephrology and Dialysis CT Scan Surprise in a Potential Kidney Donor Prince Singh , Andrew Bentall, and Stephen B. Erickson KIDNEY360 1: 582–583, 2020. doi: https://doi.org/10.34067/KID.0000662020 Clinical Images in Nephrology and Dialysis The case represents a rare condition of crossed renal Case Answer ectopia, which was discovered incidentally during do- A 53-year-old woman presented for evaluation as a po- nor evaluation. The subject presented with normal tential living donor to her cousin. She did not have any kidney function without any proteinuria or hematuria. prior medical history. Serum chemistry was unremark- She also had two successful pregnancies in the past able with serum creatinine of 0.75 and an iothalamate despite the presence of pelvic kidney. Long-term clearance of 110 ml/min. Urine microscopy was nor- follow-up is advised given increased predisposition mal with no proteinuria or hematuria. As part of donor to urinary obstruction, infection, or urolithiasis. evaluation, she underwent computed tomography an- giogram of abdomen/pelvis (Figure 1), which revealed a normally positioned right kidney with the left kidney Teaching Points attached to the inferior pole of the right kidney and c Crossed renal fusion is a rare anomaly resulting from midline in lower abdomen. There were four renal abnormal development of ureteric bud during 4– arteries and three renal veins. Collecting system 8 weeks of gestation. showed medullary sponge kidney in appearance. c Renal ectopia is usually asymptomatic and often Given the increased surgical risk of procedure due to discovered incidentally. complex anatomy, she was not allowed to proceed c Patients with fusion anomalies have significantly with kidney donation.
    [Show full text]