Diseases of Malnutrition

NUTRITION II DISEASES OF MALNUTRITION

NUTRITION II DISEASES OF MALNUTRITION

PROF.DR. SHAHENAZ M. HUSSIENPROF.DR. SHAHENAZ M. HUSSIEN

DISEASES OF MALNUTRITION

OBJECTIVESBy the end of this lecture you will be able to know the

followings:-Protein energy malnurition diseases ( marasmus and

Kwashiokor); definition; causes; clinical picture, complications, investigations, prevention and management.

-Vitamin D- defficiency Rickets and review other types of rickets; definition; causes ; clinical picture; complications; investigations; prevention and management.

Classification of P.E.M.:-1-Welcome classification: -This classification depends mainly on body weight

for age and the presence or absence of oedema.

Body weight less than 60% : Without oedema: (marasmus)With oedema : (marasmic kwashiorkor )

Body weight 60-80% Without oedema : (under weight)

With oedema : (kwashiorkor)

2- Water-law classification: This classification gives an idea about the duration

of occurrence of the disease. Weight for length > 80% of the standard: Wasted

-This means acute malnutrition (within 6 months).

Length for age > 90% of the standard: Stunted. - This means chronic malnutrition (more than 6

months).Weight for length > 80% of the standard length for

age > 90% of the standard: Wasted and stunted.

KwashiorkorKwashiorkor results from lack of protein in diet.

Age:- * Mainly 6months → 3years.

Aetiology:- General causes: 1- Maternal ignorance. 2- Poverty. Dietetic errors: Excess starchy feeding. Infections:

1- Diarrhea 2- Measles. 3- T.B.Clinical pictures: Constant features:

1- Growth failure: 1-Wheight at 60 – 80% of standard age.2- Failure to gain wheight then followed by weight loss.3- Wasted → decreased weight for length.4- Lastely, height and head circumference may be affected.

2- Muscle wasting:- Mostly defects biceps and triceps.- Leading to hypotonia and weakness.- Muscle wasting: detected by: • Decreased mid-arm circumference. • Decreased muscle / fat ratio. • Decreased skin fold thickness.

3- Oedema (nutritional oedema):- Mainly due to hypoproteinemia.

- Starts early at the dorsum of feet and legs, then becomes generalized bilateral, pitting and painless. Buffy checks with moon face appearance. -Not associated with ascites.

4- Mental changes:

- The patient becomes apathetic, disoriented with his surroundings

Variable features:1- Hair changes: - Colour:- lighter progressively, black to dark brown

Light brown to orange to yellow.- Texture:- soft and easily broken. Distribution:- sparse.- Attachment :- loose easily epilated without pain.

- Flag sign (diagnostic sign) due to repeated attacks and affection of hairs in segmental manner which leads to bands of light colour alternating with bands of darkening in the same hair.2- Skin changes: - Dry scaly skin followed by erythema.

- Areas of hyperpigmentations which is followed by exfoliated skin.- Areas of hypopigmentation - Fissuring and cracking of the skin.- Purpura. - Secondary bacterial infection. 3- Hepatomegally (fatty liver).- Soft to firm and smooth with rounded

border. - Caused by increased fat mobilization to the liver from the body.

4- Gastro-intestinal manifestations:- Anorexia caused by infections and mental changes.- Diarrhea, caused by: Infection, maldigestion, malabsorption and lactose

intolerance- Vomiting.

5- Anaemia may be:- Microcytic hypochromic anaemia:- due to iron deficiency anemia- Normocytic normochromic anaemia:- due to infection and hypoproteinemia.- Megaloblastic anaemia:- due to folic acid and vitamin B12 deficiency.

6- Infections: occurs due to:- Epithelial cells linning of the gastro-intestinal tract and respiratory tract

were laible to invasion by micro-organisms.- Impaired immunity.

• Infection may be masked by absence of fever due to:· Oedema leading to increase heat loss.· Hypoglycemia leading to decrease heat production.· Impaired shivering due to muscle wasting.

- Most common infections are: gastro enteritis, pneumonia, otitis media, T.B., urinary tract infection, Candida infections.

7- Signs of vitamin deficiencies:- Vitamin A deficiency: xerosis, keratomalacia, night blindness, corneal

opacities.- Vitamin B deficiency: glossitis, angular stomatitis. - Vitamin C deficiency: scurvy, bleeding gums.- Vitamin D deficiency: rickets.

8- Hemorrhagic manifestations: mainly due to - Vitamin K deficiency - Protein deficiency and increased capillary fragility.

Investigations:- Plasma proteins: 1- Decreased total serum proteins.

2- Decreased serum albumin 3- Decreased ∂ and β globulins. 4- Decreased essential aminoacids. 5- Reversed albumin / globulin ratio . 6- Normal or increased non-essential aminoacids. 7- Special proteins:

- Decreased transferrin (used to transfer iron). - Decreased ceruloplasmin (used to transfer copper). - Decreased haptoglobulin. Blood sugar: Hypoglycemia. Water and electrolytic disturbances:

1- Increased total body water (intra and extra cellular).2- Increased sodium level but water retention is excessive lead to hyponaetremia (dilutional).

3- Decreased potassium level, mainly due to vomiting and diarrhea. 4- Decreased calcium level.

Minerals: Mg, Fe, Cu, Zn and all other trace elements are reduced. Hematological changes:

1- Anaemia.2- Leucocytosis, may be leucopenia.3- Thrombocytosis.

Tuberculin test. Chest X-ray.

Complications of kwashiorkor:- Infections: 1- Bronchopneumonia is the most common cause of death.

2- Others: otitis media, U.T.I., T.B., monilial infections. 3- Gastroenteritis: diarrhea, malabsorption and dehydration. Hypoglycemia. Heart failure: due to:1- Anaemia. 2- Volume overload (fluid or blood). 3- Weak myocardial contractility.

MARASMUS

MarasmusDefinition:-It is a state of chronic malnutrition due to deficiency of total caloric

requirements. - Commonly seen in the first 2years of life.

Etiology:- 1- Socio-economic causes : Ignorance, poverty, depression. 2- Dietetic errors (nutritional marasmus):1- Quantitative disorders- Scanty breast milk (in amount or number of feeds).

- Small amount of feed. - Delayed weaning.2- Qualitative disorders - Over dilutional formula in artificial feeding.

- Cow`s milk protein allergy. 3- Non-dietetic errors (secondary marasmus) : 1- Gastroenteritis. 2- Malabsorption syndromes. 3- Infections. as T.B., pyelonephritis,

chronic suppurative lung disease.

4 - Congenital abnormalties: - G.I.T.:- congenital pyloric stenosis, cleft lip and palate.- Liver:- congenital hepatic cirrhosis.- CVS:- fallots tetralogy, V.S.D.- Chest :- congenital interstitial fibrosis.- Renal:- renal agenesis, obstructive uropathy.- CNS:- defective cerebral development.

5 - Metabolic disorders: - Renal tubular acidosis. - Fructosemia. - Urea cycle defects.- Galactosemia. - Amino acid defects.

6 - Endocrinal disorders:- Juvenile D.M. - Adrenal insufficiency.

Clinical picture of marasmus:- Growth failure:1- At first, there is failure to gain weight then loss of weight occurs.2- Weight less than 60% of the ideal weight for age.

Loss of subcutaneous fat:1- First degree: loss of subcutaneous fat in the abdominal wall.2- Second degree: loss of subcutaneous fat in limbs, buttocks and abdominal wall.3- Third degree: loss of subcutaneous fat in face limbs and abdominal.

Muscle wasting:- Detected by decreased mid-arm circumference.- Marked pallor due to associated anaemia.- Subnormal temperature due to loss of subcutaneous fat.

Gastro-intestinal manifestations: 1- Anorexia 2- Constipation .3- Diarrhea due to gastroenteritis and malabsorption.

4- Signs of vitamin deficiencies.

5- Infections:- Pneumonia, Gastroenteritis, Otitis media, U.T.I and T.B.

Investigations:--Complete blood picture:1- RBCs:- anaemia (all types of anaemia can be found).2- WBCs:- leucocytosis or leucopenia.3- Platelets:- thrombocytopenia. -Total proteins and serum albumin: Slightly reduced. -Urine analysis :-1- Culture in case of U.T.I. 2- Glucosuria in case of D.M. -Stool analysis: For parasites or steatorrhea. -Chest X-ray: For bronchopneumonia or congenital heart disease. -Tuberculin test. -Intestinal biopsy: If there is malabsorption.

Complications:- 1- Oedema:- marasmus kwashiorkor. 2- DIC. 3- Pressure sores. 4- Fatal

hypothermia.

Management of P.E.M. Management of simple undernutrition:

1- Can be managed at home without hospital admission.

2- Diet should provide:120-150 kcal/ kg / day, proteins: 2-4 gm/ day.

3- Frequency: - Small frequent feeds (every 2-4 hours).

4- Types of foods which can be used:- Choose suitable, locally available, economically feasible weaning foods as

milk, eggs, cereals, vegetables, beans and if feasible animal proteins.

5- Regular follow up of weight is very important.

Treatment: of the complications.1- Treatment of dehydration:-ORS is the golden treatment for dehydration due to P.E.M. we must avoid

I.V. fluid therapy as possible for the risk of heart failure due to overload except if there is shock. - The recommended regimen for the treatment of dehydration due to malnutrition as follow:

- ORS given slowly: in amount of 70-100 ml / kg over 12 hours.- At the first 2 hours, the patient receives 10 ml / kg.- The remaining amount given over the following 10 hours.- Add 50-100 ml after each watery stool.- I.V. fluids: ringers lactate plus glucose in a percentage of 1:1 and add 2.5

ml of 15% kcl for each one litter. 2- Treatment of infections:- Appropriate antibiotics even if the signs of infection is not present.- In manifest infection:- according to culture and sensitivity.

3- Treatment of electrolyte disturbances:- Hypoglycemia:- glucose 10% 2 ml / kg I.V. and regular feeding.- Hypocalcemia:- Ca gluconate 10% slowely I.V (2ml / kg).- Hypokalemia:- Add K to the I.V. fluids (2mEq / kg).4- Treatment of hypothermia- Proper wrappings. - Put under radient warmth.

5-Treatment of anaemia: If severe give: - Fresh blood in amount of 20 ml / kg. - Fresh packed RBCs in case of anaemic

heart failure in amount of 5-10 ml / kg. - Fresh frozen plasma 10 ml / kg in case of hypoprothrombinemia .

Dietetic management Route: - Oral. - Nasogastric tube.- Small feeds (every 2-3 hours).- Half strength and half amount in the first 2days then increased gradually

until we reach full strength . - Start with 120-150 kcal / kg / day, and after 1-2 weeks we increase calories

gradually up to 200 kcal / kg / day.

3- Food used in management:- Milk, youghurt, rice, beans, lentils, fish, meat, eggs and chicken. Oils, sugar may be added for food to increase calories content.

4- Vitamins and minerals:- Vitamin A, vitamin D and vitamin B complex.- Calcium, zinc and iron. If no satisfactory response to good dietary management, look for: * Hidden infections as U.T.I. * Hidden disease as anaemia, C.H.D and,

metabolic disorders.

Prevention of PEM:1- Breast milk feeding promotion. 2- Proper weaning.3- Early detection of P.E.M. by using weight charts and MAC. 4-Immunization.

5- Control of most common diseases such as diarrhea.6- Food supplementation programmes: - Iron to treat anaemia.- Iodine to treat and prevent hypothroidism.7- Health education

RICKETSVitamin DVitamin D is one of the group of fat soluble vitamins which are essential for calcium

and phosphate metabolism.Sources of Vitamin D are:- Animal source as Vitamin D3 (cholecalciferol) is present in fish liver oil and egg yolk,

Powdered milk and breast milk.- Plant source: as Vitamin D2 (Ergocalciferol) present in irradiated green plants: by

ultraviolet irradiation. -Endogenous source: ultraviolet irradiation converts 7 dehydrocholesterol in the skin to Vitamin D3.

Metabolism: - Vitamin D is absorbed from upper part of intestine aided with bile salts which form micelles transported by lymphatics to liver.

Also: ultraviolet rays converts (7-dehydrochocholesterol) in skin to Vitamin D3 that transported to liver.

In the liver:Both Vitamin D2, D3 are hydroxylated to 25-OH cholecalciferol by 25

hydroxylase enzyme.In the kidney:

-In renal cortex: 25 (OH) D is converted to 1, 25 (OH)2 D (1.25 Dihdoxycholecalciferol) by 1 ,25 hydroxylase enzyme, which is the active form and function as hormone.

-If Ca and Ph are normal or high, 24 hydroxylase enzyme is activated to form 24, 25 (OH)2 D which is less active form. This pathway is essential for removal of excess Vitamin D.

Function: Receptors for 1,25 (OH)2 D are present in most tissues .

-Intestine: When serum level of calcium falls leads to stimulation of parathormone hormone secretion ,and stimulation of 1.25 hydroxylase in the kidneys that enhance production of 1,25 (OH) 2 D3. This induces synthesis of calcium binding protein (calbindin – D) in the intestine that leads to absorption of calcium. -Kidney: tubular reabsorption of Ca and Ph. -Bone: enhance mineralization of bone matrix.

Vitamin D deficiency rickets.Epidemiology:Age: 6months – 2years – peak at 18months.Sex: more in males.Race: negros are more susceptible.Growth: more in rapidly growing infants : twins, preterms. Environment: smoke, dust, clouds and ordinary window glass prevent

ultraviolet rays to reach the skin.

Rachitogenic diet:- High phosphate content in unmodified animal milk → decrease calcium

absorption.- Cereals rich in phytates and phosphates interfer with calcium absorption

due to formation of insoluble salts with calcium.

Clinical pictureEarly manifestation: - Anorexia. Irritability, sweating.• Craniotabes: caused by thinning of the outer table of the skull. • Rachitic rosaries: It is a prominant enlargement of the costochondral

junction and felt as a raw of beads.• Broadening of wrists and ankles due to epiphysial enlargement.Advanced manifestation:Head:• Large if rickets develops early in the 1st year.• Large anterior fontanell with delayed closure.• Bossing of the skull ---- due to thickening of the central parts of parietal

and frontal bone.• Delayed teething with enamel defect and caries may occur.

Thorax:• Rachitic rosaries.• Longitudinal grooves developed posterior to the rosaries with flattening of

sides of chest cage.• Harrison sulcus: a horizontal depression at the lower part of the chest

along the costal attachment of the diaphragm which is dragged in during inspiration.

• Pigeon breast deformity: the sternum with its adjacent cartilage appears to project forward.

Vertebral spine:• Kyphosis: dorso-lumber and is apparent while sitting due to laxity of

spinal muscles and ligament. • Scoliosis: lateral curvature of the spine.• Lordosis: may be seen in the lumber region while standing.• Pelvis: concomitant deformity (contracted inlet and outlet)

Extremities: • Broadening of epiphysis of long bone especially at wrist and ankle.• Marfan sign: a transverse groove over the medial malleolus due to defect

in osteoid deposition in the centres of ossification • Deformities: due to weight bearing at the shaft of bones leading to:

– Bowing of forearm in creeping infants.– Bowlegs or knock-knees (genuvarus, genuvalgum).– Genue recruvature (over extension) → during walking.

Non skeletal signs:• Hypotonia and laxed ligament lead to:-• Delayed motor milestones as delayed sitting,and walking with waddling.• Pot belly abdomen due to weakness of abdominal muscles.• Ptosis of liver and spleen: due to chest deformity and weak abdominal

muscles.

Complications:-Respiratory tract infection: due to chest deformity.-Tetany: is uncommon with nutritional rickets. -Iron deficiency anemia.-bone deformities and fracture. -Dental caries.

Diagnosis: Clinical manifestations , Laboratory, and Radiology Laboratory investigations:-Serum calcium: may be normal or low (9 -11 mg/dl).-Serum phosphate level: almost always is less than 4mg/dl (n: 4.5 – 6.5 mg%).-Serum alkaline phosphatase level is increased < 500± IU/1 (N 50Iu – 200Iu

/dl) due to increased osteoblastic activity.-Serum parathormone hormone (PTH) → high. -Serum 25 (OH)2 D → is low.

Non specific findings:-Generalized aminoaciduria. - Low bone citrate level.-Elevated urinary citrate excretion. - Impaird renal acidification.-Phosphaturia and occasionaly glucosuria.

Radiological changes:By X rays: best seen at the lower end of long bone especially wrist and ankle.

* Active rickets:-Lower end: broadening -Cupping (concavity). - Wide joint space.Fraying and epiphyseal line (faint, irregular) indistinct.Shaft: - Rarefaction → decreased bone density. - Greenstick fracture: may occur in the long bone with no symptoms.

* Healing rickets (2 – 3 weeks after treatment). - A line of preparatory calcification appears with no fraying.

- Other features of active rickets are less evident.

* Heald rickets (after 4 weeks)The lower end becomes straight, thick and slightly irregular than normal.

Prevention:- *Vitamin D supplementation: Full term ----- 400 IU /day from the 3rd month.*Premature ----- 1000 IU /day from 2nd week.

Treatment:• Both natural (sunlight) and artificial light of the appropriate

wave length are effective therapeutically: but administration of Vitamin D either orally in daily doses or in a single large dose is preferable (1500 I.U)for 6-8 weeks.

• Daily oral administration of 500- 1500 iu of Vitamin D or 0.5 – 2 mg of 1.25 (OH)2 D can produce healing within 2 – 4 weeks except in Vitamin D refractory rickets.

• Alternatively, single large dose (shock therapy) 600.000 IU given once IM and can be repeated every 2 – 4 weeks until healing occurs (maximum 2-3 doses).

Other variants of rickets

1- Familial hypophosphatemia (Vitamin D resistant rickets, X linked hypophophatemia).

Pathogenesis:• Defect in proximal tubular reabsorption of phosphate.• Defect in the conversion of 25 (OH) D to 1,25 (OH)2 D.

Diagnosis:• Develop after 2 years of age.• Retarted growth and bone deformities are marked.Laboratory finding:• Normal or slightly reduced serum calcium.• Moderately reduced serum phosphate.• Increased urinary excretion of phosphate.

2- Renal osteodystrophy (ROD)- In patients developing chronic renal failure from glomerular or

hereditary disease, may also have growth retardation and rickets.

Pathophysiologic manifestations of chronic renal failure: - Decreased 1 hydroxylase enzyme leading to impared renal

synthesis of 1.25 (OH)2 D that lead to mineralization defect.

- phosphate retention cause↓ serum calcium and 2ry hyper parathyoidism that lead to more bone resorption.

Investigations: - Serum calcium:- decreased .

-Serum phosphate :- increased.

- 25 (OH)2 D :- increased

3- Vitamin D – Dependent rickets(pseudo Vitamin D deficiency).This type appears at age 3-6 months , and is a type of calcium deficiency

Type I: - Defect in enzyme necessary for formation of 1.25(OH) 2D.

Type II: (hereditary resistance) End organ resistance to 1.25 (OH)2 D some patients have → short stature and alopecia totals.

4- Fanconi syndrome.A generalized defect in proximal tubular transport characterized by

proteinuria, glucosuria, phosphatasia, aminoaciduria, and proximal renal tubular acidosis.

5- Low's syndrome (oculocerebro renal syndrome).-X linked recessive disorder.- Characterized by: congenital

cataract, sometimes glaucoma, mental retardation and fanconi syndrome.

-Blindness and renal insufficiency may develop.6- Hypophosphatasia: AR disorder.It is an inborn error of metabolism in which the activity of tissue (liver, bone,

kidney) alkaline phosphatase is deficient.Types: • Severe infantile form (congenital lethal hypophosphatasia)Characterized by: moth-eaten appearance at end of longs bone and marked

shortening of longs bone • Milder form (hypophosphatasia tarda) occurs in childhood or late

adolescence may present with bowing of the legs with short stature.- Hypercalcemia in neonatal and infantile forms.