Transcript GANGGUAN PERTUMBUHAN PADA ANAK

GANGGUAN
PERTUMBUHAN PADA
ANAK
Gangguan pertumbuhan

G ro w th C h a rt
195
190
97
185
180
50
175
170
165
3
160
155
150
145
H e ig h t
(c m )
140
135
130
125
120
115
110
105
100
95
90
85
80
2
4
6
8
10
12
14
A g e (y e a rs )
16
18

Perawakan normal
pertumbuhan
terganggu
Gangguan pertumbuhan

G ro w th C h a rt
195
190
97
185
180
50
175
170
165
3
160
155
150
145
H e ig h t
(c m )
140
135
130
125
120
115
110
105
100
95
90
85
80
2
4
6
8
10
12
14
A g e (y e a rs )
16
18

Perawakan pendek
pertumbuhan normal
ETIOLOGI PERAWAKAN
PENDEK
Perawakan pendek dapat disebabkan oleh kelainan
endokrin ataupun non endokrin seperti
 Genetik atau familial
 Kelainan kromosom atau sindrom tertentu
 Penyakit kronis
 Gangguan gizi
 Deprivasi psikososial
 Skeletal disorder
 Intra Uterine Growth Retardation (IUGR)
 Constitutional Delay of Growth and Pubeerty (CDGP)
 Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.
PERAWAKAN PENDEK
KECEPATAN TUMBUH NORMAL?
YA
TIDA
K
VARIAN NORMAL
PATOLOGIS
PROPORSI ?
BB/TB?
DISMORFISM ?
PERAWAKAN PENDEK
PATOLOGIS
PROPORSIONAL
DISPROPORSIONAL
BB/TB 
ENDOKRIN
•DEFISIENSI GH
•HIPOTROID
•KORTISOL
•PSEUDOHIPOPARA
TIROID
BB/TB 
•MALNUTRISI
•INFEKSI KRONIS
•PENYAKIT
KRONIS
(ORGANIK)
•PSIKOSOSIAL
•IUGR
KELAINAN
DISMORFIK
PERAWAKAN PENDEK
PATOLOGIS
DISPROPORSIONAL
•DISPLASIA TULANG
A/HIPO CHONDROPLASIA
•KELAINAN METABOLIK
RICKETS
•GANGGUAN SPINAL
RADIASI KRANIOSPINAL
SPONDYLODYSPLASIA
KELAINAN DISMORFIK
•KELAINAN KROMOSOM
TRISOMI 21
SINDROM TURNER
•SINDROM-SINDROM ( IUGR)
FETAL ALCOHOL, RUSSELLSILVER, PRADER-WILLI,
NOONAN, SECKEL, de LANGE,
LARON, COCKAYNE dll
PERAWAKAN PENDEK
VARIAN NORMAL
FAMILIAL SS
USIA TULANG = USIA
KRONOLOGIS
TINGGI DEWASA <
PERSENTIL-3
SESUAI POTENSI
GENETIK
CONSTITUTIONAL DELAY OF
GROWTH AND PUBERTY
USIA TULANG < USIA
KRONOLOGIS
TINGGI DEWASA >
PERSENTIL-3
SESUAI POTENSI
GENETIK
RIWAYAT KELUARGA (+)
Pola-pola pertumbuhan linier
Pola-pola pertumbuhan linier
Sindrom Turner (ST)
 Tinggi
dewasa 137-146.8 cm
 Etiologi perawakan pendek
 aksis
longitudinal tubuh
 gangguan tulang panjang lebih berat dari
vertebra
(Lippe, 1993)
 Rosenfeld
et al (1994)
 Pemberian
dini terapi GH
 Kombinasi GH + oxandrolone
 Estrogen  induksi pubertas
Penatalaksanaan
Familial short stature : tidak diterapi
 Constitutional delay of growth and puberty
(CDGP): tidak diterapi
 Tergantung kausal : nutrisi, infeksi, dll
 Hormonal : GH, tiroid, sex steroid
 Dysproporsional SS : achondroplasia,
osteogenesis imperfecta, sindr. Down, dll;
tidak diterapi

Anak umur 5 tahun ,)
Tall Stature
Introduction
Definition
Tall stature : height above 97th percentile
for age, sex and race.
 GH excess, occurs during childhood when
open epiphyseal growth plates allow for
excessive linear growth
 Cause

Intrinsic
 Acquired

Growth cessation


Puberty  sex steroid
(estrogen)  
epiphyseal fusion
Bone age



Girls 14 – 16 yrs
Boys 18 – 20 yrs
Sex steroid & growth


Low dose: stimulate
High dose: inhibit
Short Stature History
Mother and fathers heights.
MPH = M(cm) + F (cm) 13 cm /2.
MPH range 8 cm.
FH short stature: males <165 cm
females <152 cm
FH delayed puberty: menarche >14 yrs in
females and continued growth after high
school in males.
Look at other sibs child development
Child Development record
A valuable source of information.
Look at all available height and weight
measurements and growth trend.
Remember that Plunket height
measurements are not precise and may be
misleading.
Check developmental milestones and
illnesses.
Soal

Data anak lelaki
usia 7tahun 4 bulan : 110 cm; bone age 5
tahun
 usia 8 tahun : 114 cm; bone age; 6 tahun
 usia 9 tahun 6 bulan : 122 cm; bone age 7
tahun

Tinggi ayah 172 cm, tinggi ibu 166 cm
 Ibu menarche 15 tahun
EVALUASI PERTUMBUHAN ANAK INI!
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Grow th Chart
Familial Short Stature
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170
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155
150
145
Height
(cm)
140
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110
105
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95
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85
80
2
4
6
8
10
12
14
Age (years)
16
18
Grow th Chart
195
Constitutional Delay of Growth & Puberty
190
185
180
175
170
165
160
155
150
145
Height
(cm)
140
135
130
125
120
115
110
105
100
95
90
85
80
2
4
6
8
10
12
14
Age (years)
16
18
Normal Variant Short
Stature
Bone Age
Puberty
Final Height
FSS
CDGD
<1 yr from CA >1 yr from
CA
On time
Delayed
Short
Normal
Pathological short stature
Proportionate: IUGR
syndromes
chronic illness
drugs
psychsocial deprivation
Disproportionate: Syndromes (partic Turner
S)
hypothyroidism
IUGR/SGA
Intrauterine growth retardation or small for
gestational age.
Very common.
Birth weight <10th PC for gestational age.
Catch-up growth above 3rd PC usually
occurs by 6 mos of age but may drag on to
2 yrs.
Short stature by 2 yrs usually associated
with short final height.
As a group these children do not reach
Turner Syndrome
Consider in all girls with unexplained short
stature or Ht below MPH range.
Commonest feature is short for MPH
(100%).
50% will only have short stature as clinical
feature.
Present with short stature, poor HV or
delayed puberty.
Normal Growth
The ICP (infant/child/puberty) model of growth (Karlberg model)
Mathematically growth is characterised by 3 periods of growth
Infant - Birth to 2 years. Rapid growth at birth declining
rapidly over the first 2 years of life – less growth hormone
dependent.
Childhood - 2 years until puberty. Relatively constant
annual growth - growth hormone dependent.
Puberty - growth primarily dependent on sex steroids and
increased growth hormone release. Sex steroids cause eventual
fusion of skeletal epiphyses and growth arrest.
Intrinsic tall stature
Familial genetic tall stature /
constitutional


Cerebral gigantism (Soto’s syndrome)

Marfan syndrome

Homocystinuria

Multiple endocrine neoplasia type 2b
Intrinsic tall stature
Chromosome
47, XYY; Klinefelter syndrome (46, XXY);
Fragile X syndrome
Beckwith-Wiedemann
Weaver
syndrome (IGF2)
syndrome
Simpson-Golabi-Behmel
syndrome (GPC3)
Bannayan-Riley-Ruvalcaba
Deficiency
syndrome (PTEN)
of aromatase/loss of function
mutations of estrogen receptor (a) in male
Acquired tall stature
Infant
of diabetic mother (hyperinsulinism)
Obesity
Sexual
(tall child normal adult height)
precocity (tall child but short adult)
Primary
hypogonadism (eunuchoid)
Hyperthyroidism
Growth
hormone excess (Gigantism,
acromegaly)
Evaluation – History & PE
Family history (constitutional, Marfan,
familial precox etc)
 Developmental history
 Birth weight and length
 Stigmata of syndrome
 Pubertal status

Evaluation – Lab

Growth pattern
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
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Parallel or not
Potential genetic height
Bone age (prediction of final height)
As indicated
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

Chromosome
Mutation analysis
Others (hormonal, imaging, cardiovascular, eye etc)
Marfan-arachnodactyly
Soto's syndrome




rare genetic disorder with excessive physical
growth during the first 2 to 3 years of life.
mild mental retardation, delayed motor,
cognitive, and social development, hypotonia
(low muscle tone), and speech impairments.
large at birth, large heads (macrocrania)
disportionately large and long head with a
slightly protrusive forehead, large hands and
feet, hypertelorism (an abnormally increased
distance between the eyes), and downslanting
eyes.
Klinefelter syndrome
Tall stature
 Chromosom : 47, XXY
 Tend to gynecomastia, Ca. mammae
 Micropenis, infertility

Therapy
Causal
 Constitutional Tall stature

reassurance
 Boys: testosterone 500mg/m2/month
 Girls: estradiol 0,1 mg/day

PENDEKATAN DIAGNOSIS GANGGUAN
PERTUMBUHAN
Kreteria awal untuk pemeriksaan lebih lanjut :
1.
Tinggi badan lebih dari 2,5 dibawah tinggi badan ratarata untuk umur kronologisnya
2.
Kecepatan tumbuh dibawah persentil ke 25 kurva
kecepatan tumbuh atau kurang dari 4 cm /tahun pada
anak berumur 4-10 bulan.
3.
Prakiraan tinggi dewasa dibawah potensi tinggi
genetiknya.
4.
Kecepatan tumbuh melambat setelah umur 3 tahun
dan turun menyilang garis persentilnya pada kurva
panjang/tinggi badan .
PENDEKATAN DIAGNOSIS GANGGUAN
PERTUMBUHAN
ANAMNESIS
Riwayat perinatal, panjang / berat lahir, trauma
lahir
Riwayar tumbuh kembang
Asupan nutrisi
Riwayat penyakit
Lingkungan psikosoaial
PENDEKATAN DIAGNOSIS GANGGUAN
PERTUMBUHAN
PEMERIKSAAN FISIK
Stigmata sindrom dismorfik / kromosom
Tingkat kecerdasan
Tanda / gejala penyakit sistemik
Tanda KEP
Tingkat maturasi kelamin
Antropometri
PENDEKATAN DIAGNOSIS
GANGGUAN PERTUMBUHAN
PEMERIKSAAN PENUNJANG
FT4, TSH
 LED, darah rutin (CBC)
 Elektrolit, BUN, creatinin, urinalisis,
tinja
 Skrining TBC
 Umur tulang (bone age)
 Rujuk untuk pemeriksaan GH / IGF-1

ACHONDROPLASIA
HIPOTIROID
DIDAPAT
HIPOTIROID
KONGENITAL
KESIMPULAN
Pertumbuhan menggambarkan keadaan
kesehatan seorang anak
 Pemantauan pertumbuhan memerlukan
pengukuran teratur dengan alat yang
tepat,
penting interpretasi hasil pemantauan
 Perlu diingat bahwa gangguan
pertumbuhan
lebih sering disebabkan oleh kelainan
non-endokrin
