DISEASES OF MALNUTRITION
OBJECTIVES
By 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.
Kwashiorkor Kwashiorkor 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.
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.
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.
Investigations:Plasma proteins: 1- Decreased total serum proteins. 2- Decreased serum albumin 3- Decreased and 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.
Chest X-ray.
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
Marasmus
Definition: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. - Galactosemia. - Fructosemia. - Urea cycle defects. - Amino acid defects.
6 - Endocrinal disorders:
- Juvenile D.M. - Adrenal insufficiency.
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.
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.
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.
RICKETS
Vitamin D
Vitamin 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.
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 picture
Early 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.
Complications:
-Respiratory tract infection: due to chest deformity. -Tetany: is uncommon with nutritional rickets. -Iron deficiency anemia. -bone deformities and fracture. -Dental caries.
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.
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).
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
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.