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All about of Vitamin D , Rickets in child and Osteomalacia in adult .

Vitamin  D


Sources of Vitamin D

★Endogenous synthesis from skin(that's why its called a hormone due to synthesise in the body)
★Food rich in vitamin D (egg yolk,cod liver oil,butter, any fat rich diet)

Function and metabolism

Vitamin D maintain serum calcium and phosphorus  concentration  that supports cellular processes, neuromuscular function and bone mineralization . Vitamin D does this by:
  • increasing calcium absorption from intestine( duodenum maunly)
  • Stimulation of calcium reabsorption from kidney(Distal renal tubules)
  •  Act on parathormone to control serum calcium concentration.

Vitamin D disorders

Rickets

Deficiency of vitamin D in growing children occrs due to imperfection of mineralization of bones and softening and destruction of the bones


Aetiology of vitmin D

  •  Prolong non exposure to sunlight
  •  Food deficient in vitamin D
  • Kidney diseases( chronic kidney disease, renal tubular acidosis)
  • Genetic disorders ( familial hypophosphatemic rickets, fancony syndrome, cystinosis)
  • Malabsorption of vitamin D( liver and intestinal disorders)


Pathogenesis of rickets

     Lack of Vitamin D

Inappropriate calcium-phosphate

homeostasis

Defective bone mineralization

Softening of the bones

Deformities and short stature

Clinical features

  • Short stature
  • protruded abdomen
  • muscle weekness
  • Box like head
  • Delayed dentation
  • dental carries
  • poor enamel formation
  • Pigeon chest deformities
  • Harrison sulcus
  • rachitic rosary
  • Widening of wrist and ankle
  • coxa vara and      vulgus
  • anterior bowing of leg
  • gait deformities 
  • Tetany
  • stridor due to laryngeal spasm
  • Seizure
  • Lordosis
  • Scoliosis and 
  • Kyphosis 

Normal bones vs rockets disease bones


Investigation


Xray show

  •  widening,cupping and frying of metaphysis
  •  wide gap between  epiphysis and metaphysis
  • density of Shaft reduced
  • Green stick fracture maybe present 
  • rachitic rosary
  • costrocondral ends of ribs ar expanded, cupped and indistinct

Blood picture

  • Serum calcium (sc): usually normal
  • Serum phosphorus (sp): low
Rachitic index( SC*SP)
Less than 30        :rickets likely
More than 40       :rickets unlikely
In between30-40 : doubtful

    
  • Serum ALP: high
Serum PTH: high
Serum 25 (OH)D and 1,25 (OH)2D: low
Serum creatinine: high in CKD and RTA
Serum electrolyte: altered in CKD and RTA

Urine picture

  1. Urine  for glucose : glycosuria(glucose present in urine)
  2. Urine for amino acid : aminoaciduria(amino acid present in urine) in fancony syndrome
  3. 24hour urinary calcium concentration: high in fancony syndrome
  4. Twenty four  hour urinary phosphate concentration: high in RTA(road traffic accident) , X linked hypophosphatemic rickets and fancony syndrome, etc

Treatment

Vitamin D3 suppliment,
Calcium supplementation, and
Phosphorus supplimentation.

Prevention

1.Exposure to sunlight
2.Vitamin D and calcium rich food intake
3.Regular vitamin D intake


Osteomalacia 


Deficiency of  Vitamin D is the most common cause of osteomalacia in Adult. Vitamin D is an important nutrient that helps us absorb calcium ion in our intestine.

Certain conditions can interfere with the absorption of vitamin D and lead to Osteomalacia :
  • Celiac disease an damage the lining epithelium  of our intestines and prevent the absorption of many nutrients like vitamin D.
  •  cancer( some types)  can interfere with vitamin D processing.
  • Liver and kidney  disease  can affect the metabolism of vitamin D.
  • A diet that doesn’t include phosphates can cause phosphate lower , which can lead to osteomalacia. 
  • Drugs induced osteomalacia: phenoytin phenobarbital etc

Sign and symptoms 

  • Bones fracture easily. 
  • muscle weakness
  • hard time walking 
  • may develop a waddling gait.
  • Bone pain, especially in  hips, is also a common symptom.
  • A dull, aching pain can spread from our hips to the lower back, pelvis, legs and ribs
 very low levels of calcium in blood may causes :
  • Arrhythmia  or irregular  heart beat
  • Tingling and numbnes around the mouth and 
  • Tingling and numbness in the  hands and feets.
  • Spasms  in hands and feets 

Diagnosis  of Osteomalacia :

  • low levels of vitamin D
  • low levels of calcium
  • low levels of phosphorus 
  • Alkaline phosphatase   is  high (indicate  Osteomalacia) 
  • Parathyroid  hormone  high  (suggest  lack of vitamin D)
  • X ray show small cracks in bones(these cracks are called looser's transformation  zones. Fracture begin with this zone

    Treatments of Osteomalacia :

    •  oral supplements of vitamin D, calcium, or phosphate for early detection
    • Exposure to sunlight  for Vitamin  D production. 
    • Liver and kidney  disease treatment prevent Osteomalacia due to liver and kidney  disease can cause impairment of Vitamin  D production. 







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