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Common Parathyroid Disorders in Children: DR Sarar Mohamed
Common Parathyroid Disorders in Children: DR Sarar Mohamed
Dr Sarar Mohamed
FRCPCH (UK), MRCP (UK), CCST (Ire), CPT (Ire),
DCH (Ire), MD
Consultant Paediatric Endocrinologist & Metabolic Physician
Associate Professor of Pediatrics
King Saud University
Agenda .
• Calcium homeostasis
• Causes of hypocalcaemia
• Rickets
• hypercalcaemia
Key-players of calcium metabolism
Function of PTH
Calcium homeostasis
Vitamin D
It increases absorption
of calcium from gut.
It increases
reabsorption of ca
from kidney.
.
Calcitonin
Anti - PTH
Target Organs
Kidney G.I.Tract
Bone
Dysfunction of parathyroid Gland - MCQ
Hyperparathyroidism
• Main symptom is hypercalcemia, and hypophosphatemia also
occurs but not always.
Pseudohypoparathyroidism
• مهم
• Normal or elevated PTH (intact pituitary function), the problem is
that end organ is resistant.
• Leading to decreased calcium and increased phosphate levels
with normal ALP.
• Clinical presentation: short stature, and obese.
• Radiology: x-ray shows short 4th metacarpal and delayed
development.
• Occur in End organ insensitivity occur in obese childrens
Calcium profile
• Reduced
mineralization
of bone matrix
due to calcium
deficiency.
Rickets results when the osteoid does not have mineral.
This can also happen quickly, depending on the severity of mineral
deficiency. In adolescents or adults it is called osteomalacia
because they are not growing bones.
Calcium deficiency/Vit D deficiency
Newborn Screening
.
Rickets: Non renal causes –
• Nutritional
• Intestinal – malabsorption
• Hepatobiliary
• Metabolic – anticonvulsant therapy
• Rickets of prematurity (happens in the first
weeks of life).
Renal causes
• Renal osteodystrophy: CRF
• Familial hypophosphataemic rickets
• Renal tubular acidosis
• Fanconi syndrome (the loss of phosphate leads to rickets).
– Primary
– Secondary - cystinosis (abnormal accumulation of amino acid cystine,
autosomal recessive, commonest cause of Fanconi), Wilson’s disease,
Lowe’s syndrome (x-linked recessive), tyrosinemia.
• Vitamin D dependent type 1 rickets (Deficiency of 1-hydroxyvitamin-D-
25-hydrolase). مهم
• Vitamin D dependent type 2 rickets (End-organ insensitivity to
autogenous 1,25-dihydroxyvitamin D). Type 2 is associated with alopecia.
مهم
– Both are autosomal recessive.
Rickets: Effect at growth end plate
Rickets
• Cupping of the epiphyses.
• Bones incapable of withstanding mechanical stresses and lead
to bowing deformities.
• Eventual length of the long bones is diminished (short stature).
Age of presentation
EXTREMITIES –
Enlargement of long bones around wrists
and ankles due to increased size of distal
bones (radius and ulna)
Bow legs, knock knees
Green stick fractures
Extra – skeletal manifestations
Rickets
• Radiology changes :
Show : Widening + cupping + decrease
Mineralization
Genu valgus Tri radiate pelvis Wrist widening
• 3- 25 hydroxylase deficincy
CYP2R1
Treatment of Rickets
• Vitamin D supplement
– Nutritional (commonest) we give vitamin
D3.
– Resistant rickets is treated by the active
form of vitamin D.
• Type and dose depends on underlying
cause of Rickets
.
Causes of hypercalcaemia
• Hyperparathyroidism
• Vitamin D intoxicity
• William syndrome
• malignancy
• Full term 1 year old boy who
presented with afebrile tonic clonic
convulsions. He has no chronic
illnesses or medication. On
examination he has no apparent
dysmorphic features and his vital
signs were normal.
a. Describe an abnormality.
b. List two important investigations to
confirm your diagnosis.
c. What is the most likely diagnosis?
• Full term 1 year old boy who presented with afebrile
tonic clonic convulsions. He has no chronic illnesses or
medication. On examination he has no apparent
dysmorphic features and his vital signs were normal.
a. Describe an abnormality.
b. List two other important investigations to confirm your
diagnosis.
Answer:
a. Bowing of legs
b. 1. Serum calcium level, serum
alkaline phosphatase, 25 Vitamin D
level, hand x-ray
2. Possible diagnosis is nutritional
Vitamin D deficiency due to the age of
the baby.
Data interpretation
. Anobese 2 year old girl was found to be hypocalcemic
and did not respond to vitamin D.These results were
found. Plasma Calcuim 1.2 mmol/L , Plasma
phosphate 2.8mmol/L ( N- 0.8-1.4)
Alkaline Phosphatase 300 1u/L
Urea 4mmol/L
Magnesium 0.7 mmol/L
Parathyroid hormone 20mg/ml ( n <1)
What is the most likely diagnosis?
Psudohyperparathyrodism
what may radiological exams of hand reveal? Shorting
of the 4th metacarbal bone عالمه مميزه
Newborn Screening