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 dilation in all parts of the nephron including Bowman’s space Focal with areas of normal and abnormal nephrons interspersed Cysts in the liver, pancreas, and other organs are common Incidence at birth 1:400-1000, but rarely identified prenatally PKD1 gene abnormality responsible for 90% Clinical manifestations usually present in the fourth decade with chronic flank pain and intermittent hematuria › Account for 10-15% of ESRD Familial incidence of childhood presentation Affected children can develop renal symptoms of ADPKD including gross or microscopic hematuria, hypertension, cyst infection, and renal insufficiency Diagnosis usually established by US › Reveals diffuse hyperechogenicity, enlarged kidneys, and cysts, usually bilateral › Criteria for ADPKD: <30 at least 2 cyst in one kidney, 30-60 at least 2 cyst in each kidney,and >60y at least 4 cyst per kidney Prenatal US-kidneys may look normal or appear enlarged and echogenic › If either parent has ADPKD the finding of enlarged echogenic kidneys in fetus confirms prenatal diagnosis Polycystic kidney Polycystic Kidney Liver cysts Also called Infantile Polycystic Kidney disease Nonobstructive dilatation or ectasia of the collecting tubules in the renal medulla › Results in microcysts of 1-2mm Severity proportional to percentage of nephrons affected by cysts Hepatic involvement with cysts, fibrosis, and portal hypertension › Also called congenital hepatic fibrosis Incidence 1:40,000-50,000 Typically presents in infancy Clinical manifestations include hyponatremia during first weeks of life, reduced concentrating ability, decreased urinary acidification capacity leads to metabolic acidosis, and recurrent pyuria Hypertension common early ESRD usually after 15yr of age Neonatal presentation with profound respiratory compromise secondary to oligohydramnios Older Children (4-8y) hepatic disease predominates › 23% experience variceal bleeding by 12y Prenatal US-enlarged kidneys with increased echogenicity In children, kidney size is typically at least 2 standard deviations greater than normal Severe form in which the kidney consists of a group of cysts with some connective tissue, but no identifiable renal tissue Defect is an abnormality of ureteral bud leading to atresia or absence of ureter Often associated with antenatal obstruction of urinary tract due to PUV, prune-belly, or UPJ Most unilateral, left kidney affected most commonly Incidence 1:3000, boys>girls Most common cause of abdominal mass in newborn period › Palpable flank mass in otherwise healthy infant Reported in a variety of syndromes › Beckwith-Wiedemann, Trisomy 18, VACTERL US-kidney grossly enlarged with loss of reniform shape and ureter is atretic or absent and multiple variably size, noncommunicating cysts separated by little or no echogenic parenchyma DMSA absence of function in affected kidney VCUG to evaluate for VUR US every 6-12mo until age 5 or involution Role of nephrectomy controversial › Recommended to treat or prevent abdominal/flank pain, UTI, hypertension, or renal malignancy Lifetime follow up despite involution or nephrectomy secondary to complications › Hypertension, UTI, proteinuria, renal malignancy Multicystic Kidney on Ultrasound More commonly known as Prune Belly Syndrome Characterized by: › deficiency of abdominal wall musculature › a dilated, non-obstructed urinary tract › bilateral cryptorchidism › talipes equinovarus and hip dislocation Incidence is 1/35-50,000 >95% occur in males Believed to be caused by in-utero urinary tract obstruction and a specific mesodermal injury between the 4th and 10th week of gestation. Associated with renal dysplasia or agenesis. Often presents with a large-capacity, poorly contractile bladder. Heart, pulmonary, GI and orthopedic anomalies occur in a large percentage of PBS patients. A 3700-g male infant is born at 38 weeks’ gestation after an uncomplicated pregnancy. The infant is noted after birth to have a dribbling urinary stream and a lower abdominal mass. Postnatal ultrasonography reveals bilateral hydronephrosis with bladder wall hypertrophy and an enlarged urethra. What is the most likely diagnosis? What is the most appropriate next test? A term newborn male has evidence of severe urinary obstruction. Most likely diagnosis: Posterior urethral valves (PUV). Most appropriate next test: Renal ultrasonography (USG). Know the various presentations of patients with PUV. Know the possible long-term sequelae associated with PUV. Be familiar with common abdominal masses in the newborn period. Abnormal congenital mucosal folds that are thin membranes impeding bladder drainage. Most common obstructive urethral lesion in male newborns found at the distal prostatic urethra. Incidence is approx’ly 1 in 8,000 males. Approx’ly 50% have reflux. VCUG is the modality of choice. Many conditions cause abdominal masses in the newborn. In this infant’s case, the dribbling urinary stream suggests PUV. An abdominal USG is a useful and noninvasive tool to aid in the diagnosis. Fetal ultrasonography assists in the prenatal diagnosis of urinary tract obstruction. Sonographic findings include bilateral hydronephrosis with bladder distention. In severe cases oligohydramnios is found and may lead to poor fetal lung development with pulmonary insufficiency and congenital contractures. Boys diagnosed prenatally during the second trimester have a worse prognosis than those diagnosed after birth. distended prostatic urethra valve leaflets bladder and/or bladder neck hypertrophy diverticula narrow stream in the penile urethra incomplete emptying of the bladder Transurethral valve ablation, vesicostomy or upper tract diversion Urethral stricture is a common complication Fetal intervention carries a high risk with mortality rate of 43% ESRD, renal insufficiency and chronic renal failure are long-term consequences A 3-month-old boy presents with fever without a source. As part of his evaluation a urinalysis is performed; a UTI is suspected. A. If the urine culture reveals UTI, renal USG and VCUG should be performed. B. VCUG should be performed only after a second UTI is diagnosed C. Antibiotics should be initiated after urine culture and sensitivities are obtained. D. Renal biopsy should be performed. E. Preferred methods of collection for urine culture for this infant include midstream clean- catch and bag urine. For any infant male with a UTI, evaluation of anatomy and function is necessary. The preferred methods of urine collection include bladder catheterization and suprapubic bladder aspiration. Antimicrobial therapy is started empirically while awaiting urine culture and sensitivity results. A 2-month-old girl presents with fever and vomiting. Her serum white blood cell (WBC) count is elevated. Urinalysis reveals 100 WBC per high-power field (unspun); it is positive for nitrates and leukocyte esterase. Urine culture results confirm a UTI; renal USG and VCUG show mild hydronephrosis and grade II VUR on the right. A. She will require surgical reimplantation of her right ureter. B. Antimicrobial prophylactic therapy should be started when her current course of antibiotics is completed. C. VCUG should be performed on a monthly basis. D. Subsequent urine specimen must be obtained only by suprapubic aspiration. E. Renal arteriography is indicated. B. Infants and children with VUR receive prophylactic antimicrobial therapy and close monitoring for infection with urinalysis and urine culture at 3- to 4-month intervals. Sulfamethoxazole-trimethoprim, trimethoprim alone, and nitrofurantoin are commonly used for antimicrobial prophylaxis, VUR is graded from I to V based on the degree of reflux. Higher-grade reflux is less likely to resolve spontaneously and is more likely to result in renal damage. A 6-month-old infant male presents to your clinic with an abdominal mass, which was discovered by his new foster mother during the child’s bath. On physical examination, you also find macroglossia and right-sided hemihypertrophy. A. Down syndrome with duodenal atresia B. Alagille syndrome and biliary atresia C. Beckwith-Wiedemann syndrome with Wilms tumor D. Neurofibromatosis and abdominal neurofibromas E. Zellweger syndrome and hepatomegaly C. This infant with features of Beckwith- Wiedemann syndrome is at high risk for developing Wilms tumor, hepatoblastoma, and gonadoblastoma. Posterior urethral valve occurs exclusively in males. Renal ultrasonography and voiding cystourethrogram are important in the evaluation of infants with urinary tract infection. Boys with posterior urethral valve are at risk for end-stage renal disease, even after appropriate therapy. .

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