Download - Renal Lecture 2 Congenital Anomalies
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
1/38
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
2/38
The renal and genital system both developfrom the intermediate mesoderm, a collectionof cell at the back of the foetal abdominal
cavity. Both drain into the same space foetal
cloaca
Form- Pronephros - cervical region
-Mesonephros - below regression
-Metanephros - pelvic region.- final adultkidney start fxn 2nd trimester.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
3/38
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
4/38
Congenital anomaliesof the urinary systemare not uncommon inclinical practice.
Many of these areasymptomatic and gounsuspected untilthere is complicationresulting insymptom.
-Anomalies of thekidney
DIVIDED.
1. Anomalies ofstructure
2. Anomalies oflocation
3. Anomalies of renalvessels
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
5/38
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
6/38
A) Bilateral renal agenesis(Potters syndrome)
- male > female;- Hx- oligohydramnious, SGA
stillborn.- characteristic potters facie
with low set or malformedear, prominent epicanthalfold, bird-like nose, smallreceding chin.
-There are usually associated
genital anomalies,pulmonary hypoplasia, andabnormalities ofextremities. Not compatiblewith life.
-No known effective
management
B) Unilateral renal agenesis-Solitary kidney- Common in male- Asymptomatic
- Associated with othersystem congenitalanomalies- Compatible with normallife span
C)Supernumerary kidney- rare, with extra kidney- small and dysplastic
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
7/38
1. Aplasia small with no renaltissue and atretic ureter
2. Hypoplasic small size butstructure is normal
-Unilateral compatible withnormal life but patient should bemonitored for life
-Bilateral, polyuria with dilute andsalt wasting with progressivedeterioration in renal failure toend stage.
3. Dysplastic: Mal-development,disorganization and persistenceof embryonic element, the
smooth muscle and cartilage. Itmay be normal, small or cystic insize.
The prognosis depend on the amount offunctional renal tissue and presence ofother anomalies like PUV or Vesico-Ureteric reflex
Unilateral No Asymptomatic Bilateral result in progression
deterioration in renal function and EndStage Renal Failure and require renalreplacement therapy.
A) Multicystic Dysplastic Kidney-Commonest form of cystic kidney disease.-Kidney tissue is replaced with non
communicating cysts of varying sizes.- Usually unilateral but abnormality of theopposite kidney are common
- Treatment not necessary, kidney usuallyinvolutes and shrinks
B) Familial and hereditary Cystic Dysplasia.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
8/38
(vi) Infantile Polycystic Kidney disease AR
-Born with large kidney and not compatiblewith life.
(v) Adult Polycystic kidney disease AD
- Present after the 2nd decade but maypresent early
- An unusual associated with intracranialberry aneurysm
- Present with Abdominal pain, haematuria,
recurrent febrile episode, hypertension,bilateral abdominal mass.
-Deterioration in renal function till the fourthdecade of life.
Dx- IVU, Renal angiography, CT, MRI or USS
TRX
-Correction of electrolytes derangement andtreatment of hypertension
- Manage Renal Failure
(vi). Juvenile Nephronopthisis AR
-Small kidneys with cysts in the renalmedulla of both kidneys.
-Pts present with polyuria, polydysia or CRF.
-Rx-Renal Replacement therapy.
(vii). Oligomeganephronia
- Small kidneys with reduce number ofnephrons which are abnormally large.
-Presentation: Polyuria, Vomiting,dehydration, salt wasting, concentrationdefect and proteinuria
-There is deterioration in renal failure toEnd Stage Renal Failure
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
9/38
Anomalies of locationA) Horseshore kidney- Infection- Stone formation
B)- Ectopic kidney located in the pelvisor abdomen
Anomalies of Uninary tract
(a) Duplicate of the ureters common ingirls- It may drain into the Urethra orvagina
- Reflux, hydroureter, hydronephrosis,dribbling and recurrent infection
enuresis.- Diagun in IVURX surgical repair
(b) Posterior Urethral Valve- obstruction mucosal told on the floor ofthe posterior urethra
- commonest cause of obstruction uropathy inmale children
Anomalies of the Bladder-
Agenesis, duplication, patent urachus andextrophy
- Vesical extrophy. The bladder is exposeddue to absence of abdominal wall muscleand skin infection is common.
Miscellaneous condition
Prime-belly syndrome:-This is a triad of absent abdominal muscle,
underscended tests and urinary tractdilatation.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
10/38
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
11/38
The obstruction lesion are mostly congenital but mayoccasionally be acquired. Complete reversal of theeffect of obstruction can be achieved by earlytreatment but a long standing obstruction lead tochanges that are usually irreversible or only partiallyreversible.
The resultant impairment of renal function is
detrimental to normal growth and development andmay be life threatening.
Obstruction uropathy often present with non special
feature and high level of clinical suspicion isnecessary for it detect
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
12/38
PATHOPHYSIOLOGY The effect of obstruction
anywhere in the urinarytract are predictable withproximal holdup of urineresulting in stasis which
leads to dilatation, infectionand increase pressurewithin the obstructedsystem.
There are reversible in the
initial stages but lead todeterioration of renalfunction if the obstructionpersists over a long periodof time.
Cause1. Posterior Urethral valve in
boys2. Phimosis3. Meatal stenosis4. Stricture5. Renal calculi6. Neuropathic bladder7. Ureterocele8. Megaureter9. Pelviureteric junction
obstruction
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
13/38
POSTERIOR URETHRAL VALVESPUV are the most common
cause of ObstructionUropathy in boys.Dilatertion of posteriorurethra and hypertrophy ofthe urinary bladder follow.
Hx -dribbling of urine,weak stream, recurrentUTT, straining duringmicturition Recurrent UTT,FTT, CRF
Dx -VCUG -
VUR and bilateral hydro-ureter and nephrosis maybe present.
Laboratory tests- evaluateRF.
Pelviretene Junction (PUJ)obstruction The condition is
characterized by ananatomical obstruction ofthe flow of urine from therenal pelvis into the ureter.
Hx -flank mass upperabdomen or pain UTI.
Gross haematuria , stoneformation anddeterioration RF
(Dietls Crisis)
DX: Ultrasandography andDTPA renogram
RX: Pyeloplasty
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
14/38
ENURESIS:
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
15/38
Enuresis is defined as the involuntary passing ofurine after the age of 5 years or inability to achievebladder control resulting in early complete evacuationof the bladder at a wrong place and time at leasttwice a month after the fifth year of life.
As a rule the bed will be soaking wet as againstincontinence, which is loss of urine without normalemptying of the bladder.
Bladder control is usually attained between the age of
one and five years. Up to the eleventh year enuresis is
twice as common in boys as it is in girls but thereafter the incidence is similar or slightly higher ingirls.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
16/38
Classification - Enuresis may be
diurnal, nocturnal orboth
- Primary orSecondary
- Primary Enuresis:when the child hasnever been dry
- SecondaryEnuresis: occurs whenafter being dry for atleast six month andstarted bed wetting.
AETIOLOGY The cause of enuresis
is always functional, incontrast to the causeof incontinence which
may be organic orfunctional.
These are multifactional andidentification of thecause help in thechoice of management
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
17/38
(1) MATURATIONAL DELAY-A delayed in the developmentof fine and gross motor skillmay occur in some normalchildren especially boys.exaggerated with stressful lifeevents and anxiety.
(2) FAMILY HISTORY ANDGENETICSThe risk of enuresis is as high as
40 percent in child withpositive history in one parentand 70 percent if both parenthad enuresis.
The mode of inheritance appearsto be autosomal dominant withreduced penetrance modulatedby environmental factor andthese genes.
(3) SLEEP FACTOR Deep sleepers and poor wake
up signals from the fullbladder. Instead of completearousal, the switch only getsthe child to light sleep.
(4) LOW BLADDER CAPACITY A low function bladder
capacity has been compared
with estimated bladdercapacity. Calculated using theage based formula.
(5) ADH: Lack of Circadian
rhythm or impaired responseof the kidney to anti diuretic
Hormone may be a cause ofenuresis especially nocturnalenuresis.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
18/38
Investigation: Based on history and
initial examination,children withuncomplicated enuresisrequire no further
evaluation. Good Hx Family history (70
percent) Anxiety, depression and
stressful life events Social disadvantage Other developmental
problems
USS and VCUG is thereserve for patient withsuspected neurologicalor urological dysfunction.
Invasive procedure likeUroflowmetry, with orwithout pelvic floor andabdominal muscle EMG,cystometry and otherurodynamic study isreserved for patient withvoiding disorder.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
19/38
Adequate clinicalassessment is essential todetermine the type andseventy of the conditionand the appropriate modeof treatment.
The choice of treatment willdepend upon the mainconcerns expressed by thefamily. A combination of abehaviour managementprogramme and medication
is most effective.
A) Treatment of organiccauses Rx UTI, DM DI (B) Voiding Training (C) Behavioural Therapy (D) Motivational therapy (E) Pharmaco therapy (F) Psychotherapy
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
20/38
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
21/38
This disorder comprises a group of tubular
transport defects characterized by inability toappropriately acidify the urine with resultantmetabolic acidosis.
Pathophysiology
The underlying abnormality consists of animpairment of bicarbonate re-absorption(Type II)or excretion of H+ions(Type I) or a combination of both; and
exists as three types in children. The plasma bicarbonate level is low, and the
children have a metabolic acidosis with
normal anion gap in all the type.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
22/38
Type I (Distal RTA) Type II Proximal RTA
This is an important cause ofsevere rachitic deformities,failure to thrive andhypokalaemia complication inchildren; there is also weakness,
polyuria and nephrocalcinosis. Lab funding: The urine is
alkaline (pH > 5.5) despitesystem acidosis. (Blood pH 290MOSM/kg
- Weight loss of 3% - 5%
- Other: skill radiograph, CT, MRT
Treatment
Desmopressin (dDAVP) is given intranasallyonce or twice daily
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
28/38
There distal tubularunresponsiveness to ADH resulting ininability to concentrate the urinehyposthenuria and polyuria
Aetiology Primary Rare X-linked recessive disorder with
profound effect in males although
females may be mildly affected. In most families, the defect is caused
by a mutation in the vasopressinreceptor. Autosomal dominant andrecessive DI has also been describedin which aquaporin (The renal waterchannel) on chromosome 12q is
defective
Secondary More common and often less severe
than primary - Obstruction Uropathy - Chronic renal failure - Sickle cell disease - Drug toxicity
CLINICAL FEATURE Present in the first week of life in the
severe form - Polyuria, polydipsia, failure to
thrive - Chronic dehydration: the
degree of dehydration may be
underestimated because the childcontinues to make urine. - Fever, instability - Poor feeding are also common
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
29/38
LABORATORY FINDINGS - Hypernatraemia,
hyperchloraemia - Urine Osmolarity < 200
mOsm/kg in the present ofserum osmolarity > 300mOSm/kg
- ADH level are normal, andthere is no response toexogenously administeredvasopressin
Treatment 1) Maintenance of adequate
fluid intake 2) Salt (sodium) restriction:
1mEq/kg/day
Treatment Cont. 3) Administration of
hydrochlorothiazide at a doseof 2 4 mg/kg/day.(Encourage proximal tubularNa+ and water re-absorption)
4) Amiloride 20mg/m2 has
an additive effect. Differential Diagnosis - Psychogenic water
drinking - Impaired thirst
mechanism - Diabetes mellitus
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
30/38
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
31/38
What is a normal BP in children...... normogram
(Age in years X 3) + 100= SBP 95th
C Blood pressure increase with age, Ht & gender The increase in blood pressure with age is largely
due to increase in height and weight. A normalvalue of blood pressure for age is < 90th
percentile. -Pre-hypertension BP -values between 90 95th
percentiles - A systolic or diastolic BP values > 95th
percentile should be repeated on at least 2 moreoccasions to confirm the diagnosis ofhypertension.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
32/38
All children with elevated systolic or diastolic
BP valves > 95th percentiles need evaluation. BP> 99th percentile is define as severe
hypertension and need more promptevaluation and treatment.
MEASUREMENT OF BLOOD PRESSURE This is done by direct intra-arterial
measurement through non invasive methodof
(1) Oscillometry (2) Mercury sphygmomanometery (3) Ambulatory Blood Pressure Monitoring
(ABPM).
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
33/38
(1) SECONDARY CAUSES A Renal parenchymal
disease- Chronic GN, Reflux
nephropathy, obstructiveUropathy
- Polycystic kidneydisease, renal dysplasia B Renal Tumors - Wilms tumor,
(Nephroblastoma)hemangiopericytoma
C Renovascular Disease - Idiopathic
Aortoarteritis (Takayasusdisease)
- Renal artery stenosis,renal artery thrombosis
SECONDARY CAUSES cont.D Cardiovascular disease
- Coarctation of aortaE Endocrine disease - Pheochromocytoma,
neuroblastoma, primaryhyperaldosteronism
- Cushing syndrome,congenital adrenal hyperplasia
(2) PRIMARY CAUSES
Essential hypertensionespecially in adolescent
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
34/38
-Asymptomatic- headache, abdominal pain, nausea; vomiting and
weight loss may be present. Severe HBP- sensorial impairment, visual
disturbance, focal neurological deficits, seizure,and heart failure, which may be the presentlyfeature. These occur at lower blood pressurecompare to adult and in acute situation with rapid
increase in the blood pressure. In sick neonate blood pressure measurement is
pertinent since hypertension manifest with featuresuggesting sepsis, intracranial haemorrhage orcardiopulmonary instability.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
35/38
(A) PreliminaryInvestigation - Urinalysis: cell, cast,
protein, 24hrs proteinexcretion
- Urine culture
- Blood, ureacreatinine, electrolytes,Bicarbonate, uric acid,calcium, fasting
cholesterol, triglycerides - Chest x-ray film
- ECG, ECHO,Adbominopelvic ultrasound - Funds examination - 99m TC DMSA scan
(B) Additional Investigation Depend on suspected
underlying cause Glomerulonephritis
Serum C3, C4, ASO Autoantibodies (ANA, Anti-
dsDNA, ANCA) Renal biopsy
Reflux Nephropathy Micturating cystourethrogram Dimercaptosuccinic (DMSA)
renal scan Intravenous Urogram
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
36/38
Renovascular disease Dopplar ultrasound Captopril primed isotype scan
(DTPA or MAG-3) Renal angiography or digital
subtraction angiography Renin sampling from renal
veins and interior vena cava Phenochromocytoma
Urine and plasmacatecholamines
Plasma calcitonin,parathormone
I-meta
lodobenzlguanidine (MIBG)scan, CT, MRI
Arterriography and cavalcatecholamine sampling.
Coarctation of the aorta Echocardiogran, angiography.
Other endocrine causes Urine steroid profile Plasma aldosterone, cortisol,
DOC Dexemethasome/ACTH test. Peripheral plasma renin and
aldosterone Spot urine catecholamines
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
37/38
2o HBP commonest in children and thetreatments depend on the cause and degree ofhypertension.
Surgical treatment is included in coarctation of
aorta and most form of renal vascularhypertension such as renal artery stenosis, renalaneurysm are often cured by revascularizationsurgical procedure and open or percutaneoustransluminal angioplasty.
-
7/28/2019 Renal Lecture 2 Congenital Anomalies
38/38
Children with symptomaticand/ or secondary
hypertension, and those withfeatures of target organdamages require therapy withantihypertensive medication.
Persistent HBP despiteadequate nonpharmacilogic
measure in essentials HBP willalso need antihypertensive.
Five classes of drug are mostsuitable in children in themanagement of HBP.
A)ACE inhibitors and receptionblockerB)B-Adrenoceptor blockser
C)Calcium Antagonists D)Diuretic: E)Adrenoceptor Blocker OTHER DRUG Centrally acting vasodilators-
Hydralazine, Minoxidil,Clonidine Methyldops.
The goal for anti-HBP
reduction of pressure below the90th percents and initial therapyshould be with single drug. Likecalcium, channel blocker, one ofthe initial medications isineffective in lowering the bloodpressure. It is necessary to use adrug from a different class.