renal lecture 2 congenital anomalies

7/28/2019 Renal Lecture 2 Congenital Anomalies

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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.


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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


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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


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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.


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(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


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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.


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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


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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


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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


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ENURESIS:


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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.


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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


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(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.


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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.


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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


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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.


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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


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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


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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


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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.


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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).


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(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


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-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.


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(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


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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


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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.


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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.

renal lecture 2 congenital anomalies

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