Nutritional Disorders

Classification or clinical spectrum

1. Under nutrition (Protein-energy malnutrition)
2. Overweight and obesity
3. Specific vitamin & mineral deficiency: e.g., Iron, vitamin D & A deficiency

Nutritional status indicators

1. Underweight: Low weight for age
2. Wasting: Low weight for height
3. Stunting: Low height for age
4. Overweight: Increased weight for height

Indicator Definition Egyptian children (UNICEF 2014)

Underweight Low weight for age 6%
Wasting Low weight for height 8%
Stunting Low height for age 21 %
Overweight Increased weight for height 14 %

Protein Energy Malnutrition

Definition
- Group of related disorders characterized by protein and energy deficiency
- PEM is a common worldwide problem particularly in underdeveloped and developing
countries
- They have variable clinical & biochemical presentations (but overlap may occur)
- Responsible for 50% of deaths in preschool children (Directly or indirectly)

Contributing factors to PEM

1. Poverty, Ignorance, Illiteracy
2. Infection: Recurrent gastroenteritis, measles, TB...
3. Urbanization: Breast-feeding becomes impractical for the working mother
4. Disasters
Natural: Earthquakes
Human-related: Wars
5. Environmental degradation: due to wasting of resources (water, food, fuel, wood)

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Clinical spectrum

Definition Features
Marasmus Severe form of chronic under-nutrition Wasting
Kwashiorkor Severe form of acute protein deficiency Edema
Wasting +
Marasmic-KWO Mixed marasmus and Kwashiorkor
Edema
Mixed forms Mixed Mixed
Nutritional Short stature +
dwarfism Mild to moderate form of chronic under- Underweight
(Most common nutrition No wasting
form) No edema
Failure to thrive Under-nutrition due to inadequate caloric
(FTT) intake, caloric absorption, or excessive caloric
expenditure

1. Marasmus
Definition
Severe form of chronic undernutrition caused by insufficient caloric intake

Incidence
- Nutritional marasmus: 6 months-2 years
- Non-nutritional marasmus: Depends on the etiology

Etiology (↓↓ Calories)

1. Nutritional marasmus
a. Dietetic
- Scanty breast milk
- Over-diluted formula

b. Infection (Recurrent GE):

- ↓↓ Intake: Anorexia & vomiting
- ↑↑ Losses: Diarrhea
- Wrong medical advice
2. Non-nutritional marasmus
a. CVS: CHD, RHD d. Hepatic: Chronic liver disease (Cirrhosis)
b. Respiratory.: TB, cystic fibrosis e. Blood: Chronic hemolytic anemia
c. Renal: Chronic renal failure f. GIT: Malabsorption (Parasites, Celiac…)
g. Others: Cleft palate, malignancy, starvation, anorexia nervosa

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Clinical Picture
1. Loss of weight: Growth curves (Quite below the expected weight for age i.e., < 5th %)
2. Muscle wasting: assessed by mid-arm circumference (Normally > 15 cm at age 6 m-6 y)
3. Loss of SC fat: Thin wrinkled skin with marked bony prominences

Degrees of Marasmus

Weight loss Loss of SC fat

st
1 degree 15-25% of the expected weight Abdominal wall
2nd degree 25-35% of the expected weight Buttocks & thighs
3rd degree > 35% of the expected weight Face (Senile facies)

4. Vitamin deficiency: A, D, K, C, B (See kwashiorkor for manifestations)

5. Mineral deficiency: Iron deficiency anemia
6. Psychological: Anxious look, irritability, continuous crying, good appetite

1st degree 2nd degree 3rd degree

Complications
1. Recurrent infections: Pneumonia, gastroenteritis (GE)…
2. Hypothermia & hypoglycemia (Due to disturbed glucose metabolism)
3. Bleeding
4. Shock: Hypovolemic or septic
5. Electrolyte disturbances and dehydration
6. Mineral deficiency: Iron deficiency anemia
7. Vitamin deficiency: see later

Investigations
1. CBC: Anemia, leukocytosis (Infection)
2. Other markers of infections: CRP, ESR, stool analysis...
3. Serum proteins: Not markedly ↓↓ (DD: kwashiorkor)
4. Electrolytes, blood glucose
5. Investigations of non-nutritional marasmus

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2.Kwashiorkor

Definition
Severe form of protein deficiency with adequate caloric intake in the form of excess
CHO
Kwashiorkor: Ghanaian word that
Incidence describes the evil spirit, which infects the 1st
6 months-2 years (Age of weaning) child when the 2nd child is born

Etiology
1. Dietetic error: Replacement of milk intake (as apart of weaning process) by high
carbohydrates low protein diet usually with the next pregnancy or delivery
2. Infections:
c. Post-GE: anorexia, vomiting, diarrhea, wrong dietary restriction
d. Post-measles
3. Maternal deprivation: Birth of another baby

Clinical picture

A. Constant manifestations

1. Edema (Diagnosis cannot be made in absence of edema)

Cause:
. Hypoalbuminemia (↓↓ Oncotic pressure)
. ↑↑ ADH & aldosterone (2ry to ↓↓ effective plasma volume)
Clinical picture
Site of onset: Dorsum of the feet
March: Then becomes generalized;
o LL edema
o Dorsum of hands
o No Ascites
Character: Pitting

2. Mental changes
Cause:
. ↓↓ Amino acids (Neurotransmitters)
. ↓↓ Niacin (& NAD, NADP)

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 . Maternal deprivation
Manifestations
. Apathy
. Lethargy
. Disinterested in the surroundings
. Miserable
. No mental retardation (These changes are reversible with Rx)

3. Disturbed muscle/fat ratio

Muscle: Wasting (↓↓ Proteins)
Fat: Excess SC fat (↑↑ CHO)
Detected by Skin fold thickness

4. Growth failure
May be masked by edema & excess SC fat

B. Variable manifestations

1. Hair changes

Cause:
. ↓↓ Sulfur-containing amino acid
. ↓↓ Tyrosine (↓↓ Melanin)
. ↓↓ Copper

Manifestations
. Sparse, soft & easily detached
. Light in color
. Flag sign: With recovery (Alternating light & dark bands)

2. Skin changes
Cause:
. ↓↓ Vitamin A
. ↓↓ Zinc
. ↓↓ Niacin
. Disturbed amino acid metabolism

Manifestations
. Site: Buttocks, perineum
. Lesions: Cracking, fissuring, ulceration, hypo- & hyperpigmentation ±
infection

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 3. Hepatomegaly
Cause:
. Accumulation of fat & glycogen due to decreased lipotropic factors
. Nutritional recovery syndrome: enlargement of the liver with initiation of TTT
due to lipid storage
Manifestations Remember
. Liver: Enlarged & soft Hepatomegaly is Variable
Fatty infiltration is Constant
4. GIT
Anorexia: Mental changes & infection
Vomiting: GE
Diarrhea: Mucosal damage, GE

5. vitamin deficiency
Vitamin A: Keratomalacia, xerophthalmia, blindness, bitot spots
Vitamin B: Stomatitis & glossitis (ariboflavinosis), Beri Beri (ataxia, heart failure)
Vitamin C: Scurvy
Vitamin K: Bleeding (Hypoprothrombinemia)
Vitamin D: Rickets does not occur (Rickets is a disease of growing bones)
Niacin: Pellagra (dermatitis, dementia, diarrhea)

6. Infections: Gastroenteritis (GE), pneumonia

7. Anemia

Complications: see marasmus

Investigations
1. Laboratory
CBC: Anemia, leukocytosis (Infection)
Serum albumin: ↓↓ (N = 3.5-5.5 g/dl) but total sodium increased
Serum globulins: ↓↓ α & β-globulins (↑↑ γ-globulins due to infections)
Electrolytes: Dilutional hyponatremia, hypokalemia, hypomagnesemia
Hypoglycemia
2. Imaging: CXR (pneumonia)

Differential edema
Other causes of generalized edema

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 Mechanism C/P
Nephrotic Hypoalbuminemia (↓↓
Nephrotic syndrome (Describe)
OP)
Nutritional Hypoalbuminemia (↓↓
Kwashiorkor (Ascites is very rare)
OP)
Hepatic Hypoalbuminemia (↓↓
Jaundice, hepatomegaly…
OP)
Cardiac Tachycardia, Tachypnea, Tender
↑↑ Venous pressure
hepatomegaly
Allergic History (exposure) + Itching + Urticaria
↑↑ Capillary permeability
(wheals)

Skin diseases
a. Pellagra: 3Ds (Dermatitis, Dementia, Diarrhea)
b. Diaper dermatitis

Other causes of PEM: See classification table

3. Marasmic- Kwashiorkor

Etiology
- Kwashiorkor patient: with CHO restriction
- Marasmic patient: treated with CHO diet
Muscle wasting
(without adequate proteins)
Clinical picture
- Kwashiorkor patient (Edema) + Loss of SC tissue
Foot edema
- Marasmic patient (Wasting) + Edema

4. Nutritional dwarfism: most common form of childhood undernutrition:

Mild to moderate form of chronic undernutrition
Short stature, Underweight & Recurrent infections (No wasting & No edema)

Prevention
1. General measures: Environmental sanitation, Socioeconomic development
Adequate food supply, prevention of infection
2. Promotion of breastfeeding: It is the simplest, cheapest & most effective method
3. Heath education
4. Nutritional education: Value of breastfeeding, proper weaning…
5. Regular assessment of child health & growth pattern: Growth curves
6. Regular assessment of nutritional state: Early manifestations of nutritional disorders
7. Proper management of childhood infections: Especially GE…
8. Proper antenatal care

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Management of protein Energy malnutrition

A) Hospital Management

1. Indications
- Moderate or severe Kwashiorkor
- Marasmic kwashiorkor
- 3rd degree marasmus
- Complications

2. Management plan (Stabilization & Rx of complications)

- Infection (GE, pneumonia…): Proper antibiotics
- Shock: Shock therapy (Immediate IV fluid: Lactated ringer's 20 ml/Kg)
- Dehydration: IV fluid therapy (Deficit therapy)
- Electrolyte disturbances: should be corrected
- Anemia: Packed RBCs
- Hypoglycemia (IV glucose), hypothermia: adequate clothing or radiant warmer

B) Nutritional Management (Home or hospital)

Kwashiorkor
Marasmus
(More difficult)
Rational
↑↑ Calories ↑↑ Proteins
(Target)
150 Kcal/Kg/day 4-6 gm/Kg/day

Type of According to the age: According to the age:

foods Milk-fed: Milk (Lactose-free
may be used initially) then
standard formula
Weaned infants: Balanced diet
[CHO = 50%, Lipids = 35 %,
Protein = 15%]
Start with ≈ 75 Kcal/Kg/day
Amount ↑↑ Amount & concentration
according to the child tolerance
(Rate of ↑↑ ≈ 5-10 Kcal/Kg/day)
Milk-fed: Milk (Lactose-free
may be used initially) then
standard formula
Weaned infants: High-protein
diet
- Egg, meat, chicken, beans
- Vegetables, fruits
Start with ≈ 1 gm/Kg/day
↑↑ Amount & concentration
according to the child tolerance

◘ Oral
Route ◘ NGT: if there is marked anorexia
Oral or Nasogastric tube (NGT)
◘ TPN: may be required in severe
cases

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Vitamins
Vitamin A
- < 6 months: 50.000 IU/day
- 6-12 months: 100.000 IU/day
- > 12 months: 200.000 IU/day
Vitamin B, C, D, E, Folic acid
Minerals
Iron (4-6 mg/kg/day)
Zinc

NB: Sequence of improvement in kwashiorkor: Mood, then appetite, then edema regress &
finally muscle bulk and edema disappear

Complications of treatment
1. Diarrhea: Due to transient CHO intolerance (Lactose)
2. Nutritional recovery syndrome: Firm enlarged liver

5. Failure to thrive

Definition
Height or weight less than 5th percentile for age in more than one occasion or
suboptimal weight gain on growth charts (mild failure to thrive: a fall across 2 centile
lines – sever failure to thrive: a fall across 3 centile lines).

Nonorganic (social or environmental),

Organic (medical),
Multifactorial and includes biologic, psychosocial, and environmental
contributors.
In more than 80 percent of cases, a clear underlying medical condition is never
identified.

A. Non organic: environmental and psychological factors : 95% of

1. Inadequate availability of foods

Feeding problems: insufficient breast milk or incorrect preparation of
formula.
Feeding disorder e.g. anorexia or infant difficult to feed.
Food: unsuitable or insufficient.

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 Low socioeconomic status.
2. Psychological deprivation
Poor maternel infant interaction
Poor maternal education
Maternal depression.
Family problem: divorce - lack of support.
3. Neglect or child abuse

B. Organic: 5%
1. Inadequate intake
Impaired suck or swallow: cleft palate, cerebral palsy, congenital heart
disease.
Chronic illness lead to anorexia: chronic renal failure, liver disease.
2. Inadequate retention: vomiting and sever gastro-oesophageal reflux.
3. Inadequate absorption (malabsorption): e.g. Cystic fibrosis, Coeliac disease.
4. Inadequate metabolism : failure to utilize nutrients.
Metabolic disorders: amino acid and storage disorders.
Chromosomal disorders: Down syndrome.
Endocrinal: insulin dependent diabetes – congenital hypothyroidism.
5. Increase requirement
Malignancy.
Chronic infections: HIV – immunodeficiency.
Thyrotoxicosis.

Diagnosis
History
Present history: any medical problems (cardiac, chest, abdominal, neurological)
Nutritional history: food diary over few days – feeding pattern and habits.
Developmental history.
Family history: the growth of other family members and any illness in the family.
Neonatal history: if the child was premature or had intrauterine growth retardation.
Psychosocial history is essential for detecting maternal or patient depression, or
identifying concerns about the caregiver’s intellectual abilities or social circumstances

Examination: aim to identify whether the cause is organic or non-organic.

General examination: dysmorphic features, loss of fat, muscle wasting,
Detailed systems examination.

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Investigations:

1. Routine laboratory testing identifies a cause of FTT in less than 1%of children
and is not generally recommended (see investigations in marasmus

During Hospitalization: observe feeding, further investigation, suspicion of abuse

or neglect, , if severe psychosocial impairment of the caregiver is evident,

Management
1- Home management: most children can be treated in outpatient
Children with mild failure to thrive can be managed by the primary care doctor
and family. In more difficult cases team work include pediatrician, nutritionist,
developmental specialist, nurses and social workers.

2- Hospital management for cases with severe malnutrition or complications

a. Nutritional management is the main line of treatment regarding the etiology
- Require more than 1.5 times expected calorie and protein intake for their
age for catch up
- For formula fed infants: increase the concentration of the formula gradually
- For older infants: increase the caloric density of the given food by adding
butter, oil or other high caloric value food
- Vitamins and minerals supplementation

b. Management of the cause and the associated complications e.g. congenital

heart disease or sever gastro-oesophageal reflux

Prognosis and Outcomes

There is agreement that severe, prolonged malnutrition, which is common in

developing countries, can negatively affect a child’s future growth (stunting) and
cognitive (and academic) development.

Children with a history of failure to thrive are at increased risk of recurrent

failure to thrive, and their growth should be monitored closely.

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 Rickets

Physiologic considerations
1. Full-term requirement of vitamin D = 10 µg = 400 IU/ day starting at birth
2. Preterm, twins & low birth weight require = 400-800 IU starting at the age of 1
month
3. Storage: in the liver (depleted in 6 months in exclusively breast fed infant)
4. Normal serum calcium Ca = 9-11 mg/d.
5. Normal serum phosphate = 4.5 - 5.5 mg/dl.
6. Ca: Ph. ratio in blood = 2:1 (optimal for mineralization of bones)
7. Calcium exists in the body in 2 forms, ionized available for bone and nervous
system growth and function and non-ionized form (storage form)

Vitamin D
GIT
Vitamin D3
(Colecalciferol)

Dietary: oily fish (salmon, sardines) Eggs,

liver, fortified milk

25 Hydroxycolechocalciferol Fat soluble vitamin

GIT
1, 25 dihydroxychocalciferol

Kidney

Bones
Hormone regulation of calcium hemostasis
Vitamin D Parathyroid hormone
Intestine ↑↑ Ca absorption ↑↑ Ca absorption (through ↑↑ Vit. D)
Kidneys
↑↑ Ca reabsorption ↑↑ PO4 excretion (Phosphaturia)

Bones Normal mineralization of bones Bone resorption (↑↑ Osteoclasts)

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Structure of normal bone: Formed of matrix (Osteoid tissue) & minerals (Ca & P)
Bone layers (in the epiphyseal region)
1. Zone of resting cartilage: 1 layer
2. Zone of proliferating cartilage: 6-8 layers
3. Zone of degenerating cartilage (= Zone of provisional calcification): Deposition of
Ca and P
4. Zone of ossification: Invasion of the ZPC by BV & osteoblasts with mineralization

Epiphyseal ossific center

Epiphysis

Resting layer

Epiphyseal Proliferating
plate Layer
Metaphysis
Diaphysis

Degenerating
ZPC
Ossification

Definition of rickets
Defective mineralization of the growing bones (Disease of childhood)

Pathophysiology of rickets

1. Bone pathology in rickets: Proliferation without ossification

2. Epiphysis: failure of Ca- Ph crystal deposition in the cartilage cells leading to
excess cartilage cell proliferation that invade the metaphysis (broadening and
fraying)
3. Diaphysis: bone rarefaction & fracture

Proliferation without ossification

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Types of rickets (Classification)

A) Ca deficiency rickets with 2ry ↑↑ PTH

- Vitamin D deficiency
- Malabsorption of vitamin D
- Hepatic disease
- Renal osteodystrophy

B) Primary PO4 deficiency (No 2ry ↑↑ PTH)

- XL-D Hypophosphatemic rickets
- Fanconi syndrome: PCT dysfunction [Glucosuria, phosphaturia,
aminoaciduria]

C) End-organ resistance to 1,25 (OH)2

D) Cases resembling rickets: Hypophosphatasia

Another classification

Vitamin D deficiency rickets Non-Vitamin D deficiency rickets

Etiology Nutritional Non Nutritional
Incidence More common Less common
Age 6 months-2 years Any age
Response to
Good Poor
Vit D therapy

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Vitamin D-Deficiency Rickets

Definition
Defective mineralization of the growing bones (Disease of childhood)

Incidence
- 6 months-2 years (Age of weaning)
Rachitogenic diet is any of:
Etiology • Deficient in vitamin D
A) Lack of vitamin D • Deficient in Ca & PO4
a. Inadequate intake of vitamin D • Non-optimum Ca:P ratio
Prolonged exclusive breast milk • ↑↑ Content of phytate or oxalates
Cow milk (Non-optimum Ca/Ph ratio)
b. Inadequate sun exposure
Wrapping
Winter-time
Windows
Dark skinned people
B) Other causes (in Non-nutritional rickets): Malabsorption, renal, hepatic
diseases…

Clinical Picture

Muscles
Skeletal and Neurological
ligaments

A. Skeletal
1. Head
Craniotabes: Ping-Pong ball sensation on pressing
over the occiput (= Bone thinning)
First sign to appear
Frontal bossing
Macrocephaly
Delayed closure of AF
Delayed dentition

2. Limbs
Broadening of the ends of long bones
Marfan sign: Transverse groove across medial malleolus
Deformities of the UL: Convexity of the forearm (if crawling)

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 Deformities of the LL
- Genu varum: Bow legs
- Genu valgum: Knock knees
- Genu recurvatum: Overextension of the knees

Genu valgum Genu varum

3. Chest
Rosary beads: Cartilage proliferation at the costochondral junctions
Pigeon chest: ↑↑ AP diameter of the chest (Protrusion of the sternum + rib
flaring)
Harrison sulcus: Horizontal groove along the costal insertion of the diaphragm
Longitudinal sulcus: Vertical groove behind rosary beads

4. Spine: Due to laxity of ligament

Kyphosis (Correctable) "DD: Pott's disease"
Scoliosis
Kyphoscoliosis
Lumbar lordosis

5. Pelvis: Contracted pelvis (important in ♀)

Rosary beads Harrison sulcus

B. Muscles and Ligaments

Hypotonia due to hypophosphatemia leading to:
1. Delayed motor milestones (Sitting, crawling, standing, walking…)
2. Downward displacement of liver & spleen (Visceroptosis)
3. Abdominal Distension due to:
• Hypotonia
• Visceroptosis (Not true enlargement)
• Constipation

C. Neurological

1. Anorexia, Irritability, sweating Remember

2. Hypocalcemic tetany: Ca is usually normal in rickets due to
2ry hyperparathyroidism

a. Causes of hypocalcemia
• Parathyroid gland exhaution
• Bone depletion (prolonged untreated cases)

64
 • Vitamin D (IM massive dose): due to rapid mobilization of Ca from blood to
bone

b. Manifestations
Latent tetany (Serum Ca = 7-9 mg %)
Asymptomatic, only elicited by provocation
o Chvostek sign: Tapping of the Facial nerve Twitches of facial muscles
o Trousseau sign: Constriction of the UL by sphygmomanometer (Carpal
spasm)
o Peroneal sign: Tapping of the peroneal nerve Pedal spasm

Manifest tetany (Serum Ca < 7 mg %)

o Carpopedal spasm
o Laryngospasm
o Convulsions

Differential diagnosis
1. Delayed closure of anterior fontanel
2. Delayed Dentition

Delayed closure of AF Delayed Dentition

Rickets Rickets
Osteogenesis imperfecta Osteogenesis imperfecta
Down syndrome Down syndrome
Hypothyroidism Hypothyroidism
Intracranial causes of
macrocephaly

3. Delayed walking
a. Neurological causes [Central & peripheral]
- Cerebral palsy
- Mental retardation
- Hydrocephalus
- Neuromuscular disorders: see neurology
b. Bone: Rickets, trauma, fractures
c. Training: diagnosed by exclusion

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 Complications
1. Respiratory: Chest infections, atelectasis (collapse), why?
Causes of chest infection:
2. Neurological: Tetany, convulsions, laryngospasm • Hpotonia (weak cough)
3. Short stature (disproportionate) • Chest deformities
4. Bone fractures & deformities
5. Iron deficiency anemia (Breast milk is deficient in both vitamin D & iron)
6. Contracted pelvis (Obstructed labor in ♀)
7. Complications of treatment (Vitamin D): Hypervitaminosis D

Investigations
A) Laboratory
Serum calcium: Usually normal but may be decreased in cases with: bone Ca
depletion, parathyroid exhaustion or with the use of high dose of vitamin D
Serum phosphorus: ↓↓ (N = 4.5-6.5 mg/dl)
Serum alkaline phosphatase: ↑↑ (Earliest manifestation)

B) Imaging (Radiological improvement start to occur after 2 wks of vitamin D

therapy)
Healing
Active Healed
(2-3 weeks of TTT)
Metaphysis Broadening, Cupping &
Dense concave white Dense straight white
Fraying
line of calcification line of calcification

Diaphysis ↓↓ Bone density

Fractures (Green-stick)
Double periosteal line
Epiphysis ↑↑ Joint space
Bone age (Carpal
bones)
Still there is
manifestations of Improved bone density
active rickets (but Deformities may persist
less severe)

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 Prevention
1. Nutritional education: Value of breastfeeding, proper weaning…
Diet rich in vitamin D: Oily fish (salmon, sardines), egg yolk, liver, butter,
fortified milk
Avoid rachitogenic diet (See before)

2. Vitamin D supplementation [40 IU = 1 μg]

Full-term: 400 IU/day (since birthh)
Preterm: 800 IU/day (as early as the 1st month)

3. Sun exposure (UVR)

4. Regular assessment of nutritional state: Early manifestations of rickets

Treatment

A) Vitamin D therapy
a. Oral therapy
Dose
- Vitamin D3: 3000-5000 IU/day
- Active form of vitamin D: 0.5-2 μg/day (1-α preparation of Vit. D can be
used)
Duration: 2-4 weeks

b. Parentral therapy
Dose: Vitamin D3: 600.000 IU (Shock therapy)
Duration: Single IM dose
Advantages
- More rapid
- No need for parents compliance
- Diagnosis of non-vitamin D deficiency rickets
Disadvantages (Side effects) Monitoring of HR is essential
- Tetany Stop if bradycardia occurs
- Hypervitaminosis D

B) Treatment of complications
a. Tetany: IV Ca gluconate 10% "1 ml/Kg" (Slowly while monitoring heart rate,
why?)
b. Deformities & Fractures: Orthopedic care (After complete bone healing)
c. Infections: proper antibiotics
d. Iron deficiency anemia: Iron (6 mg/Kg/day)

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Hypervitaminosis D

Etiology
Prolonged oral vitamin D therapy
Parenteral vitamin D therapy (Shock therapy)

Clinical picture
GIT: Anorexia, nausea, vomiting, constipation
Renal: Polyuria, polydipsia, renal stones (Dysuria, colics, UTI…)

Prevention
Careful vitamin D therapy

Investigations
Laboratory: ↑↑ serum Ca, ↑↑ Urinary Ca
Imaging: X-rays, US (Nephrocalcinosis, stones)
Treatment
Stop vitamin D & Ca therapy, IV fluids, Steroids

Non-Vitamin D Deficiency Rickets

Classifications

A. Renal rickets
a. Renal glomerular (Renal osteodystrophy)
- Etiology: Defective vitamin D activation (1α-hydroxylation) and phosphorus
retention
- Chronic kidney disease should be suspected in patients with non-nutritional
rickets

b. Renal tubular
- X-linked hypophosphatemic rickets
- Vitamin D dependent rickets type 1 & 2
- Fanconi syndrome: Renal tubular defect [Glucosuria, phosphaturia,
aminoaciduria]
- Cystinosis: Fanconi syndrome + Corneal cystine crystal (Pathognomonic)
- Lowe syndrome: Oculo-cerebro-renal syndrome [Glucoma & cataract-MR-
Fanconi]

B. Malabsorption
a. Cystic fibrosis
b. Celiac disease

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 c. Chronic Cholestasis

C. Hepatic rickets
- Chronic liver disease
- Due to defective vitamin D activation (25-hydroxylation) & defective
absorption

Investigations
Treatment of the cause
Vitamin D dependent rickets: Active form of vitamin D Dose 0.1 µg/ kg / day
Hypophosphatemic rickets: oral phosphate. (o.5 gm / day) and Active form of
vitamin D

Vitamin A Deficiency
Clinical picture
Eye: Keratomalacia, xerophthalmia, blindness, bitot spots (= Conjunctival plaques)
Skin: Dry, scaly skin
Increased susceptibility to infections: GE & pneumonia

Prevention
Diet: Eggs, liver, fruits, vegetables
Supplementation:
- At the age of 12 months (with MMR vaccine): 100.000 IU
- At the age of 18 months (with OPV, DPT & MMR vaccines): 200.000 IU

Keratomalcia

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