Nephrotic syndrome

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Case Presentation Congenital Nephrotic Syndrome : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 1 DR VICTORIA WRIGHT ST 2 GP VTS Case Presentation Congenital Nephrotic Syndrome

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 2 Case Presentation CE Background: 2 Year Old Girl Congenital Nephrotic Syndrome (Nov 2007) Bilateral Nephrectomy (April 2009) Peritoneal Dialysis APD Hypothyroidism Factor 12 Deficiency Febrile Convulsions (Feb 2009)

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 3 Case Presentation CE PC ‘Generally unwell’ HPC Came 2 days before, treated for tonsillitis with Pen V, improved then worsened again Clingy (5 days, worsened day of admission) Off feeds and not drinking (1 day) 1 x Vomit, No Diarrhoea Not been taking medications (2 days)

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 4 Case Presentation CE Medication (NKDA) Levothyroxine Penicillin V Sytron Alfacalcidol Calcichew EPO Abidec Peritoneal Dialysis every night

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 5 Case Presentation CE Immunisations Up to Date Development ?‘A little slow’ reviewed and follow up not required Social History Only child, lives with mum and dad, very knowledgeable Family History No renal conditions Mum had fits has a child after meningitis Birth History 36 wks, NVD, 2.81kg, no antenatal concerns, low BM at birth discharge on day 2

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 6 Case Presentation CE On Examination Temp 35.5, HR 108, RR 32, BP 86/43, Sats 96%, Weight: 10kg, Cap refill normal, looking around Looked unwell, crying, ‘floppy’, moving all four limbs HS Normal & No murmur Chest clear Abdo soft and non tender Ears NAD

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 7 Case Presentation CE Then Started having a left sided focal seizure A - Maintained B - Chest still clear, RR 25 C - HS Normal with no murmur, HR 125 D - Responding to Voice E - Temp 36.3, BM 15

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 8 Case Presentation CE Management plan Buccal Midazolam (5 mg) Reassessed: A - Maintained – O2 given B - RR 35, Sats 98% on 5 L , CXR requested C - HS I&II&O, HR 125, Monitored, cannulated (FBC, U&E, LFT, Ca, Mg, INR, glucose, cultures, gases), fluids given (2/3rd maintenance) D - Responding to Voice E -Temp 36.4, peritoneal fluid for culture

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 9 Case Presentation CE Differential Diagnosis Febrile convulsion (Atypical) Electrolytes disorder Infection +/- involving the central nervous system Focal bleed

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 10 Case Presentation CE Treatment Antibiotic (Cefotaxime) Antiviral (Acyclovir) Moved to HDU

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 11 Case Presentation CE Blood results Hb 7.1 WCC 7 MCV 84 PLT 384 INR 1 Urea 15.7 (baseline 11.2) Creatinine 488 (base line 374) K 5.8 Na 133 Mg 1.06 Ca 2.38 Albumin 33 CRP 21.4 Glucose 8.8 Venous Gases PH 7.461 pCO2 5.84 Po2 7.26 HCO3 30.5 BE 6.7 CXR – Normal Peritoneal fluid -  No growth, Normal WCC

Case Presentation CE : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 12 Case Presentation CE What happened next: Started on dialysis, ? Needed urgent CT scan ? Needed LP D/W Renal Team Transferred to RMCH Left sided hemiparesis, urgent MR scan, EEG, LP (blood stained), Cultures –ve, started on phenytoin and aspirin Discharged: Seizure, ‘Cause unknown’

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 13 Nephrotic Syndrome in Children

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 14 Nephrotic Syndrome in Children Caused by renal diseases that increase the permeability across the glomerular filtration barrier Classically characterized: Nephrotic range proteinuria — Urinary protein to creatinine ratio >200mg/mmol Hypoalbuminaemia — Serum albumin concentration less than 25 g/L Oedema Hyperlipidemia

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 15 Nephrotic Syndrome in Children Other features: Hypertension (rarely) Foamy urine May have features of the underlying cause (ie rash : SLE, HSP) Examination should also exclude other causes of oedema

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 16 Nephrotic Syndrome in Children Commonest glomerular disease of childhood Incidence is 2-3:100,000 per year Median age at presentation 4 years More common in males than females (ratio 3:2)

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 17 Nephrotic Syndrome in Children

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 18 Nephrotic Syndrome in Children Presentation Non specific presentation (URTI, with onset of oedema, lethargic, irritable and have poor appetite, diarrhoea and abdominal pain) periorbital, genital and/or dependent oedema Transudative ascites – (esp in children) Pleural effusions Abdominal discomfort (hypovolaemia, ascites or peritonitis) Diarrhoea and/or vomiting

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 19 Nephrotic Syndrome in Children Investigations Urine dipstick analysis (protein and blood) Protein:creatinine ratio Urine ( microscopy, sensitivity and culture) Serum electrolytes, albumin, triglyceride and cholesterol, calcium FBC Complement C3 and C4 levels Varicella zoster serology Hepatitis B and C serology ? Atypical presenting features: ASO titre, anti-DNAse B, lupus antibody serology (ANA, ENA, ds- DNA), ANCA Finding of heavy proteinuria (3-4+) on dipstick and oedema in a child in the developed world usually means a diagnosis of Nephrotic syndrome

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 20 Nephrotic Syndrome in Children Treatment The majority of children with nephrotic syndrome will respond to steroid therapy Symptomatic management Is important in the early course of therapy as response to steroid therapy may take several weeks It is the mainstay of therapy in children who fail to respond to steroids Symptomatic management Persistent proteinuria: salt and fluid restriction, and diuretics Prevention of thromboembolic complications: mobilization, hydration, and early treatment of sepsis or volume depletion Infections: pneumococcal and varicella vaccines Persistent hypertension are more likely to have chronic kidney disease with poor outcome, ACE inhibitors or angiotensin II receptor blockers

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 21 Nephrotic Syndrome in Children Complications Hypovolaemia Renal vein thrombosis Arterial thrombosis Infection Iron deficiency due to loss of transferrin and iron Muscle wasting Accelerated atherosclerosis Indications for Renal Biopsy <12 months, >12 years Increased BP Macroscopic haematuria Impaired renal function Decreased C3/4 Failure to respond after 1 month of steroid therapy

Nephrotic Syndrome in Children : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 22 Nephrotic Syndrome in Children The prognoses Minimal change disease A third have just one episode A third have infrequent relapses A third have frequent relapses throughout childhood which abate during adulthood; life expectancy is normal Focal segmental glomerulosclerosis A third remit after a prolonged course A third have continuing haematuria and proteinuria but have normal renal function A third progress to end stage renal failure

Congenital Nephrotic Syndrome : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 23 Congenital Nephrotic Syndrome

Congenital Nephrotic Syndrome : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 24 Congenital Nephrotic Syndrome Congenital Nephrotic syndrome is very rare Presents at birth or within the three first months of life Later onset, between three months and one year of age, is called infantile nephrotic syndrome Most of these children have a genetic basis for the renal disease and a poor outcome The precise diagnosis of the glomerular lesion is based on clinical, laboratory and histological criteria

Congenital Nephrotic Syndrome : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 25 Congenital Nephrotic Syndrome Primary Congenital Nephrotic Syndrome – ‘Finnish’ Microcyctic disease Diffuse Mesangial Sclerosis Minimal change nephrotic syndrome Focal Segmental glomerulosclerosis Drash syndrome Secondary Syphilis Toxoplasmosis Cytomegalovirus Mercury Nail-Patella Syndrome

Congenital Nephrotic Syndrome : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 26 Congenital Nephrotic Syndrome Symptoms Low birth weight Large placenta Swelling (total body) Decreased urine output Foamy appearance of urine Poor appetite Cough

Congenital Nephrotic Syndrome : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 27 Congenital Nephrotic Syndrome Treatment Early and aggressive treatment Diuretics ACE inhibitor Non-steroidal anti-inflammatory drugs Antibiotics may be needed Dietary modifications Fluids restriction Removal of the kidneys, dialysis, and kidney transplant may be required

Congenital Nephrotic Syndrome : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 28 Congenital Nephrotic Syndrome Prognosis Many fatal within the first year May be successfully controlled with early and aggressive treatment, including early kidney transplantation Complications Frequent, severe infections Malnutrition and related diseases Thrombosis Acute kidney failure Chronic kidney failure End-stage kidney disease

Congenital Nephrotic Syndrome – ‘Finnish’ Microcyctic Disease : 

19/10/2009 Paediatric Meeting/RI/Dr V Wright 29 Congenital Nephrotic Syndrome – ‘Finnish’ Microcyctic Disease Autosomal Recessive Inheritance 1.2:10,000 births in Finland (With prenatal screening, the incidence has fallen to 0.9 per 10,000 births) Massive proteinuria at birth – enlarged placenta Severe outcome Due to mutations in the NPHS1 Gene encoding nephrin

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