This case study describes a 2.5 year old male child presenting with generalized swelling of the body for 5 days. On examination, facial puffiness and pitting edema of the limbs were observed. Laboratory investigations found nephrotic range proteinuria, hypoalbuminemia, and hyperlipidemia. A preliminary diagnosis of nephrotic syndrome, likely minimal change disease, was made. The child was started on treatment and further investigation with a renal biopsy was recommended to confirm the diagnosis.

1. A CASE STUDY
Moderator
Dr. Jouslin k Baranwal
Asst. Prof
Department of
Biochemistry, BPKIHS
Presenter
Binaya Tamang
MSc. 3rd year
Department of
Biochemistry, BPKIHS

2. History
Name: Rhythm Rai
Age: 2.5 years
Sex: Male
Religion: Hindu
From: Chulachuli
Patient Id:2724478
• On 74/ 2/18, 4: 05 PM
• Reported to the pediatric emergency with the chief complains of
Generalized swelling of the body X 5 days .
Swelling started from the face followed by swelling of abdomen , upper and
lower limbs.
No h/o of rash , fever, sore throat, fast breathing
Patient was taken to the local hospital and some medicine was given, a USG
was done and referred to BPKIHS.

3. History of Present Illness
• The patient was apparently well 5 days back when his mother noticed
swelling of her face, which was acute in onset and gradually progressing
towards the abdomen and bilateral upper and lower limbs.
• The swelling is painless and pitting in nature.
• The overlying skin was normal and there is no history of itching and rashes.
• No h/o frothy urine ,yellowish discoloration of urine
• No h/o cough, chest pain
• No h/o abdominal pain, loss of appetite, vomiting.
• No h/o fever , joint pain, photosensitivity and oral ulcers

4. Contd,,,
• No h/o altered bowel habit and bladder
• No h/o passage of frank blood in the urine
• No h/o crying at micturition , yellowish discoloration of the body
• No h/o any skin infection
• No h/o petechia, purpura.

5. Past history:
• h/o throat infection 2-3 months back
• No h/o of similar illness
• No h/o TB, asthma, HTN, DM
• No h/o fever with rash, neck swelling.
Antenatal:
• No any ANC visits
• No TT vaccines
• No iron and calcium taken
• No h/o fever, rashes, lymphadenopathy
• No h/o excessive vomiting, increased frequency of
micturition
• No h/o burning micturition, increased urgency
• No h/o PV bleeding, spotting
• No h/o headache, blurring of vision, epigastric
pain.
Perinatal history:
• Normal term, spontaneous vaginal delivery at (
patient not sure of exact date)
• Baby cried at birth.
• Baby weight:-2.0 kg
• Breast feeding at 4 hours of life.
Post natal history:
• No h/o Excessive bleeding
• No other complications

6. Family history:
• No h/o similar illness in family
• No h/o consanguineous marriage
• No h/o TB, DM, Kidney deases
• No h/o HTN
Dietary History:
• Tea+ 1 kotori rice+ 1 kotori daal+ 1
kotori potato curry
• Not significant history given by
mother.
Immunization history:
• Immunization as per EPI schedule
with strictly all vaccines given to child
Developmental History
• H/o normal developments
• Explore drawers, runs ups and
downstairs
• Vertical and circular strokes
• Asks for food , toilets
• 2-3 word sentence, short sentences

7. On Examination
General condition:
• facial puffiness +ve
• Edema +ve, bilateral pitting
edema of limbs
• No any scar marks of infection
Vitals
• Pulse: 110/min; regular, normal
vol and character,
• RR: 22/min
• Temp: 98 F
• BP: 90/60 on rt arm in sitting
position
 GPE
• Pallor
• Icterus
• Lymphadenopathy
• Cyanosis
• Dehydration
Anthropometry
• Weight: 13.5 kg

8. GIT:
Abdomen distended, umbilicus central, all quadrant moving symmetrically
with respiration, no venous prominence, no scar marks, hernia site are intact.
On palpation: no local rise in temp
no tenderness
no any lump and organ
On percussion: shifting dullness present
 Chest: Bilateral Equal Chest Expansion;B/L Normal
vesicular breath sounds ; no added sounds, Trachea Central
CVS: S1S2,Mo, No added sounds.
Preliminary Diagnosis.
Probably a case of nephrotic syndrome. Mostly Minimal change Disease (
as per incidence and geography).

10. Investigation
• Biochemical Parameters
Parameters Result Reference range
UREA 14mg/dl 10-50
Creatinine 0.2mg/dl 0.5-1.4
Sodium 131 mmol/L 136-145
Potassium 4.1mmol/L 3.5-5.0
Total Protein in 24 hrs
urine
360 ml/ 0.27 g/day 1500-2500
<0.15
Serum
cholesterol(Total)
423 mg/dl <200
Serum albumin 2.3 g/dl 3.5-5.3
Urinary protein
creatinine ratio
0.51
3.06
<0.2mg/g

11. Contd….
Urine RE Result
Albumin 4+
Sugar Nil
Microscopic Test
WBCs 2-3/HPF
RBCs 8-10/HPF
Epithelial cells 3-5/HPF
Others not seen.
Urine culture and sensitivity
Sterile after 24 hours.
HBsAg, HCV and HIV negative
Sputum AFB : not seen.

12. Hematological parameters.
Parameters Result Reference
Blood group O positive
CBC
Hemoglobin 12.8 gm/dl 11-16gm/dl
PCV 35.9 36-48%
TLC 9400 4000-11000 cell/mm cu
Neutrophil 25 40-75 %
Lymphocyte 60 20-45%
Monocyte 06 2-10%
Eosinophil 09 1-6%
Platelet 324000 150000-400000cell/mm cu
ESR 54 1st hour

13. Final Diagnosis
• With the clinical sign and symptoms , lab diagnosis, age as well as other no
secondary diseases associated.
• Nephrotic syndrome with some hematuria. Most probably minimal change
disease nephrotic syndrome for the confirmation renal biopsy is preferred.
• Most (>85%) of children MCN.

14. Treatment Given :
Sryp Ritocef (5/50) 5ml x PO x BD
Tab Emsolone 25 mg x PO X OD Orally allowed
Sryp Digene 5ml x PO x BD

16. Glomerular Membrane
 Modified capillary wall comprising endothelium (50-100
nm pores)
 A cell-less basement membrane and
an outer specialized epithelial cell layer
(55 nm slit diaphragm)
 The whole of the glomerular membrane carries a fixed net
negative charge:
 Due to a Glycosialoprotein coat
 Charge increases in density from the Lamina Interna
towards the Lamina rara Externa with the greatest
density at the slit diaphragm of the epithelium

17. Adapted
from :
Notes For
USMLE

18. Nephrotic Syndrome
It is a common glomerular disease, characterized by
nephrotic range proteinuria and a triad of clinical findings
associated with large urinary losses of protein :
hypoalbuminaemia , edema and hyperlipidemia
It is clinical face of glomerular injury.
Why ‘nephrotic
range’
Defined as
protein excretion of > 40 mg/m2/hr
and >3.5 gm/day.

19. Incidence ( paediatric ) ?
• 2 – 7 cases per 100,000 children per year
• Higher in underdeveloped countries ( South east Asia )
• Occurs at all ages but is most prevalent in children
between the ages 1.5-6 years.
• It affects more boys than girls, 2:1 ratio
http://www.kidney.org/site/107/pdf/NephroticSyndrome.pdf

20. Etiology
• Genetic
• Secondary
•Idiopathic or Primary

21. Types of nephrotic syndrome
Causes prevalence(%)
children adults
Primary glomerular diseases
Membranous nephropathy 3 30
Minimal change disease 75 8
Focalsegmental glomerulosclerosis 10 35
Membranoproliferative glomerulonephritis and dense disease 10 10
Other proliferative glomerulonephritis(focal, pure mesangial, IgA nephropathy 2 17
Systemic Disease
Diabetes mellitus, amyloidosis, systemic lupus erythematous
Drugs ( NSAIDS, penicillamine, heroin), infection ( malaria, syphilis, hepatitis B and C, HIV), Malignant disease
( carcinoma, lymphoma), Miscellaneous ( bee-sting, hereditary nephritis)

22. Pathophysiology :- Minimal change disease
• This relatively benign disorder is characterized by diffuse effacement of
foot processes of visceral epithelial cells( podocytes), detectable only by
electron microscope, appear virtually normal by light microscope.
• It is the most common cause of nephrotic syndrome in children(2-6
years)
Pathogenesis: idiopathic but current leading hypothesis involves some
immune dysfunction that results in the elaboration of factors that
damage visceral epithelial cells and cause proteinuria.
• Animal model=angiopoietin –like-4 but not have been proven to cause in
human.
• Primary visceral epithelial cell injury (podocytopathy) and loss of
polyanions.
• Protein traverse capillary wall remains enigma.
http://www.highlands.edu/academics/divisions/scipe/biology/faculty/harnden/2122/images/renalcorpuscle.jpg

25. Complex disturbances in
immune system
Genetic Mutations /
Mutations in proteins
Extensive effacement of podocyte foot processes
Increased permeability of the glomerular capillary wall
Massive proteinuria
Hypoalbuminaemia
Edema

26. How changes occurs?
The glomerular capillary wall, with its endothelium , GBM and visceral
epithelial cells, acts as size and charge barrier through which plasma filter
passes.
Increased permeability from either structural and physiochemical alterations
in this barrier allows proteins to escape from plasma in to urine 
proteinuria.
Heavy proteinuria depletes serum albumin level at rate beyond the
compensatory synthetic capacity of liverhypoalbunemia

27. The generalized edema is a direct consequence of decreased intravascular colloid
osmotic pressure .
There is also sodium and water retention, which aggravates the edema.
• Several factors including compensatory secretion of aldosterone mediated by
hypovolemia-enhanced renin secretion; stimulation of sympathetic system; and
a reduction in the secretion of natriuretic factors such as atrial peptides
Edema ; soft and pitting, and is most marked in periorbital regions.
The genesis of the hyper lipidemia is complex.
 Increased synthesis of lipoproteins in the liver
 Abnormal transport of circulating lipids particles
 Decreased lipid catabolism.
 Finally lipiduria seen as oval fat bodies.

28. Clinical features
•Edema
• Mild to start with – peri orbital puffiness, lower extremities
• Progression to generalized edema, ascites, pleural effusion, genital edema
•Decreased urine output
• Anorexia, Irritability, Abdominal pain and diarrhea
• Absence of
• Hypertension
• Gross hematuria

29. Vulnerable of
• Infection , especially staphylococcal and pneumococcal infection
probably due to loss of immunoglobulins.
• Thrombotic and thromboembolic complication : antithrombin III
• Anemia due to loss of transferrin.

30. Lab Investigations
• Urine Examination
• Complete Blood Count & Blood
picture
• Renal parameters :
• Spot Urine Protein : Creatinine
ratio
• Urinary protein excretion
• protein selectivity ratio
• Liver Function Test
• Renal Biopsy ???
• Urinalysis - 3+ to 4+ proteinuria
• Renal Function
• Spot UPC ratio > 2.0
• UPE > 40 mg/m2/hr
• Serum Creatinine – normal or
elevated
• Serum albumin - < 2.5 gm/dl
• Serum Cholesterol/ TGA levels –
elevated
• Serum Complement levels –
Normal or low

31. Additional Tests
• C3 and antistreptolysin O
• Chest X ray and tuberculin test
• ANA
• Hepatitis B surface antigen
• Genetic analysis
Ghai Essential Paediatrics,8th edition, page 478
Indications for Biopsy
• Age below 12 months
• Gross or persistent microscopic hematuria
• Low blood C3
• Hypertension
• Impaired renal Function
• Failure of steroid therapy

32. Management
• High protein diet
• Salt moderation
• Treatment of infections
• If significant edema – diuretics
Aldosterone antagonist (
Fursemide, spironolactone )
• Corticosteroid therapy with
Prednisolone or prednisone
• ( 2mg/kg per day for 6 weeks
followed by
1.5 mg/kg single morning dose on
alternate days for
6 weeks )
Ghai Essential Paediatrics,8th edition, page 476, 477

33. Complications
• Edema
• Infections
• Thrombotic complications
• Hypovolemia and Acute renal Failure
• Steroid Toxicity
Ghai Essential Paediatrics,8th edition, page 480, 481

34. Parent education.
• Should be explained about diseases and the usual outcomes
• Their cooperation is ensured
• If possible they are taught how to examine urine for protein,
• Which should be done periodically to detect relapse early.