Kgm-427 Slide Kelainan Gigi Akibat Gangguan Pertumbuhan Dan Perkembangan (1)
Kuliah Gangguan Pertumbuhan Pbl
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GANGGUAN GANGGUAN PERTUMBUHAN PADA PERTUMBUHAN PADA
ANAKANAK
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Gangguan pertumbuhanGangguan pertumbuhan
Perawakan normalPerawakan normal pertumbuhan pertumbuhan
tergangguterganggu
G r o w t h C h a r t
8 0
8 5
9 0
9 5
1 0 0
1 0 5
1 1 0
1 1 5
1 2 0
1 2 5
1 3 0
1 3 5
1 4 0
1 4 5
1 5 0
1 5 5
1 6 0
1 6 5
1 7 0
1 7 5
1 8 0
1 8 5
1 9 0
1 9 5
2 4 6 8 1 0 1 2 1 4 1 6 1 8
A g e ( y e a r s )
H e i g h t ( c m )
97
50
3
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Gangguan pertumbuhanGangguan pertumbuhan
Perawakan pendekPerawakan pendek pertumbuhan normalpertumbuhan normal
G r o w t h C h a r t
8 0
8 5
9 0
9 5
1 0 0
1 0 5
1 1 0
1 1 5
1 2 0
1 2 5
1 3 0
1 3 5
1 4 0
1 4 5
1 5 0
1 5 5
1 6 0
1 6 5
1 7 0
1 7 5
1 8 0
1 8 5
1 9 0
1 9 5
2 4 6 8 1 0 1 2 1 4 1 6 1 8
A g e ( y e a r s )
H e i g h t ( c m )
97
50
3
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ETIOLOGI PERAWAKAN ETIOLOGI PERAWAKAN PENDEKPENDEK
Perawakan pendek dapat disebabkan oleh kelainan Perawakan pendek dapat disebabkan oleh kelainan endokrin ataupun non endokrin sepertiendokrin ataupun non endokrin seperti
Genetik atau familialGenetik atau familial Kelainan kromosom atau sindrom tertentuKelainan kromosom atau sindrom tertentu Penyakit kronisPenyakit kronis Gangguan giziGangguan gizi Deprivasi psikososialDeprivasi psikososial Skeletal disorderSkeletal disorder Intra Uterine Growth Retardation (IUGR)Intra Uterine Growth Retardation (IUGR) Constitutional Delay of Growth and Pubeerty (CDGP)Constitutional Delay of Growth and Pubeerty (CDGP) Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.
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PERAWAKAN PENDEKPERAWAKAN PENDEK
YAYA
PATOLOGISPATOLOGIS
KECEPATAN TUMBUH NORMAL?KECEPATAN TUMBUH NORMAL?
TIDAK
TIDAK
VARIAN NORMALVARIAN NORMAL
PROPORSI ?PROPORSI ? DISMORFISM ?DISMORFISM ?
BB/TB?BB/TB?
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PERAWAKAN PENDEKPERAWAKAN PENDEK
PATOLOGISPATOLOGIS
PROPORSIONALPROPORSIONAL
BB/TB BB/TB
ENDOKRIN
•DEFISIENSI GH
•HIPOTROID
•KORTISOL
•PSEUDOHIPOPARATIROID
ENDOKRIN
•DEFISIENSI GH
•HIPOTROID
•KORTISOL
•PSEUDOHIPOPARATIROID
BB/TB BB/TB
•MALNUTRISI
•INFEKSI KRONIS
•PENYAKIT KRONIS (ORGANIK)
•PSIKOSOSIAL
•IUGR
•MALNUTRISI
•INFEKSI KRONIS
•PENYAKIT KRONIS (ORGANIK)
•PSIKOSOSIAL
•IUGR
KELAINAN DISMORFIK
KELAINAN DISMORFIK
DISPROPORSIONALDISPROPORSIONAL
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PERAWAKAN PENDEKPERAWAKAN PENDEK
PATOLOGISPATOLOGIS
KELAINAN DISMORFIKKELAINAN DISMORFIKDISPROPORSIONALDISPROPORSIONAL
•DISPLASIA TULANG
A/HIPO CHONDROPLASIA
•KELAINAN METABOLIK
RICKETS
•GANGGUAN SPINAL
RADIASI KRANIOSPINAL
SPONDYLODYSPLASIA
•DISPLASIA TULANG
A/HIPO CHONDROPLASIA
•KELAINAN METABOLIK
RICKETS
•GANGGUAN SPINAL
RADIASI KRANIOSPINAL
SPONDYLODYSPLASIA
•KELAINAN KROMOSOM
TRISOMI 21
SINDROM TURNER
•SINDROM-SINDROM ( IUGR)
FETAL ALCOHOL, RUSSELL-SILVER, PRADER-WILLI,
NOONAN, SECKEL, de LANGE, LARON, COCKAYNE dll
•KELAINAN KROMOSOM
TRISOMI 21
SINDROM TURNER
•SINDROM-SINDROM ( IUGR)
FETAL ALCOHOL, RUSSELL-SILVER, PRADER-WILLI,
NOONAN, SECKEL, de LANGE, LARON, COCKAYNE dll
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PERAWAKAN PENDEKPERAWAKAN PENDEK
VARIAN NORMALVARIAN NORMAL
FAMILIAL SSFAMILIAL SS CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY
CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY
USIA TULANG = USIA KRONOLOGISTINGGI DEWASA < PERSENTIL-3SESUAI POTENSI GENETIK
USIA TULANG = USIA KRONOLOGISTINGGI DEWASA < PERSENTIL-3SESUAI POTENSI GENETIK
USIA TULANG < USIA KRONOLOGISTINGGI DEWASA > PERSENTIL-3SESUAI POTENSI GENETIKRIWAYAT KELUARGA (+)
USIA TULANG < USIA KRONOLOGISTINGGI DEWASA > PERSENTIL-3SESUAI POTENSI GENETIKRIWAYAT KELUARGA (+)
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Pola-pola pertumbuhan linierPola-pola pertumbuhan linier
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Pola-pola pertumbuhan linierPola-pola pertumbuhan linier
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Sindrom Turner (ST)Sindrom Turner (ST)
Tinggi dewasaTinggi dewasa 137-146.8 cm 137-146.8 cm Etiologi perawakan pendekEtiologi perawakan pendek
aksis longitudinal tubuh aksis longitudinal tubuh gangguan tulang panjang lebih berat dari gangguan tulang panjang lebih berat dari
vertebravertebra(Lippe, 1993)(Lippe, 1993)
Rosenfeld et al (1994)Rosenfeld et al (1994)Pemberian dini terapi GHPemberian dini terapi GHKombinasi GH + oxandroloneKombinasi GH + oxandroloneEstrogen Estrogen induksi pubertas induksi pubertas
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PenatalaksanaanPenatalaksanaan
Familial short stature : tidak diterapiFamilial short stature : tidak diterapiConstitutional delay of growth and puberty Constitutional delay of growth and puberty
(CDGP): tidak diterapi(CDGP): tidak diterapiTergantung kausal : nutrisi, infeksi, dllTergantung kausal : nutrisi, infeksi, dllHormonal : GH, tiroid, sex steroidHormonal : GH, tiroid, sex steroidDysproporsional SS : achondroplasia, Dysproporsional SS : achondroplasia,
osteogenesis imperfecta, sindr. Down, dll; osteogenesis imperfecta, sindr. Down, dll; tidak diterapitidak diterapi
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Anak umur 5 tahun ,) Anak umur 5 tahun ,)
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Tall StatureTall StatureTall StatureTall Stature
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IntroductionIntroduction
Definition Definition Tall stature : height above 97Tall stature : height above 97thth percentile percentile for age, sex and race.for age, sex and race.
GH excess, occurs during childhood when GH excess, occurs during childhood when open epiphyseal growth plates allow for open epiphyseal growth plates allow for excessive linear growthexcessive linear growth
CauseCause Intrinsic Intrinsic AcquiredAcquired
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Growth cessationGrowth cessationGrowth cessationGrowth cessation
Puberty Puberty sex steroid sex steroid (estrogen) (estrogen) epiphyseal fusionepiphyseal fusion
Bone ageBone age Girls 14 – 16 yrsGirls 14 – 16 yrs Boys 18 – 20 yrsBoys 18 – 20 yrs
Sex steroid & growthSex steroid & growth Low dose: stimulateLow dose: stimulate High dose: inhibitHigh dose: inhibit
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Short Stature HistoryShort Stature History
Mother and fathers heights.Mother and fathers heights.
MPH = M(cm) + F (cm) MPH = M(cm) + F (cm) 13 cm /2.13 cm /2.
MPH range MPH range 8 cm.8 cm.
FH short stature: males <165 cmFH short stature: males <165 cm
females <152 cmfemales <152 cm
FH delayed puberty: menarche >14 yrs in FH delayed puberty: menarche >14 yrs in females and continued growth after high females and continued growth after high school in males.school in males.
Look at other sibs child development Look at other sibs child development records.records.
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Child Development recordChild Development record
A valuable source of information.A valuable source of information.
Look at all available height and weight Look at all available height and weight measurements and growth trend.measurements and growth trend.
Remember that Plunket height Remember that Plunket height measurements are not precise and may be measurements are not precise and may be misleading.misleading.
Check developmental milestones and Check developmental milestones and illnesses.illnesses.
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SoalSoal
Data anak lelaki Data anak lelaki usia 7tahun 4 bulan : 110 cm; bone age 5 usia 7tahun 4 bulan : 110 cm; bone age 5
tahuntahunusia 8 tahun : 114 cm; bone age; 6 tahunusia 8 tahun : 114 cm; bone age; 6 tahunusia 9 tahun 6 bulan : 122 cm; bone age 7 usia 9 tahun 6 bulan : 122 cm; bone age 7
tahuntahunTinggi ayah 172 cm, tinggi ibu 166 cmTinggi ayah 172 cm, tinggi ibu 166 cm Ibu menarche 15 tahunIbu menarche 15 tahun
EVALUASI PERTUMBUHAN ANAK INI!EVALUASI PERTUMBUHAN ANAK INI!
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Growth Chart
80
85
90
95
100
105
110
115
120
125
130
135
140
145
150
155
160
165
170
175
180
185
190
195
2 4 6 8 10 12 14 16 18
Age (years)
Height (cm)
Familial Short Stature
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Growth Chart
80
85
90
95
100
105
110
115
120
125
130
135
140
145
150
155
160
165
170
175
180
185
190
195
2 4 6 8 10 12 14 16 18
Age (years)
Height (cm)
Constitutional Delay of Growth & Puberty
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Normal Variant Short Normal Variant Short StatureStature
FSSFSS CDGDCDGD
Bone AgeBone Age <1 yr from CA<1 yr from CA >1 yr from >1 yr from CACA
PubertyPuberty On timeOn time DelayedDelayed
Final HeightFinal Height Short Short NormalNormal
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Pathological short staturePathological short stature
Proportionate:Proportionate: IUGRIUGR
syndromessyndromes
chronic illnesschronic illness
drugsdrugs
psychsocial deprivationpsychsocial deprivation
Disproportionate:Disproportionate: Syndromes (partic Turner Syndromes (partic Turner S)S)
hypothyroidismhypothyroidism
Skeletal dysplasiasSkeletal dysplasias
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IUGR/SGAIUGR/SGA
Intrauterine growth retardation or small for Intrauterine growth retardation or small for gestational age.gestational age.
Very common.Very common.
Birth weight <10th PC for gestational age.Birth weight <10th PC for gestational age.
Catch-up growth above 3rd PC usually Catch-up growth above 3rd PC usually occurs by 6 mos of age but may drag on to occurs by 6 mos of age but may drag on to 2 yrs.2 yrs.
Short stature by 2 yrs usually associated Short stature by 2 yrs usually associated with short final height.with short final height.
As a group these children do not reach As a group these children do not reach MPHs.MPHs.
Approx 10% become short adults.Approx 10% become short adults.
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Turner SyndromeTurner Syndrome
Consider in all girls with unexplained short Consider in all girls with unexplained short stature or Ht below MPH range.stature or Ht below MPH range.
Commonest feature is short for MPH Commonest feature is short for MPH (100%).(100%).
50% will only have short stature as clinical 50% will only have short stature as clinical feature.feature.
Present with short stature, poor HV or Present with short stature, poor HV or delayed puberty.delayed puberty.
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Normal Growth
The ICP (infant/child/puberty) model of growth (Karlberg model)
Mathematically growth is characterised by 3 periods of growthInfant - 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.
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Familial genetic tall stature / constitutional
Cerebral gigantism (Soto’s syndrome)
Marfan syndrome
Homocystinuria
Multiple endocrine neoplasia type 2b
Intrinsic tall statureIntrinsic tall statureIntrinsic tall statureIntrinsic tall stature
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Chromosome 47, XYY; Klinefelter syndrome (46, XXY); Fragile X syndrome
Beckwith-Wiedemann syndrome (IGF2)
Weaver syndrome
Simpson-Golabi-Behmel syndrome (GPC3)
Bannayan-Riley-Ruvalcaba syndrome (PTEN)
Deficiency of aromatase/loss of function mutations of estrogen receptor (a) in male
Intrinsic tall statureIntrinsic tall statureIntrinsic tall statureIntrinsic tall stature
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Infant of diabetic mother (hyperinsulinism)
Obesity (tall child normal adult height)
Sexual precocity (tall child but short adult)
Primary hypogonadism (eunuchoid)
Hyperthyroidism
Growth hormone excess (Gigantism, acromegaly)
Acquired tall statureAcquired tall statureAcquired tall statureAcquired tall stature
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Evaluation – History & PEEvaluation – History & PE
Family history (constitutional, Marfan, Family history (constitutional, Marfan, familial precox etc)familial precox etc)
Developmental historyDevelopmental historyBirth weight and lengthBirth weight and lengthStigmata of syndromeStigmata of syndromePubertal statusPubertal status
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Evaluation – LabEvaluation – Lab
Growth patternGrowth pattern Parallel or notParallel or not Potential genetic heightPotential genetic height
Bone age (prediction of final height)Bone age (prediction of final height) As indicatedAs indicated
Chromosome Chromosome Mutation analysisMutation analysis Others (hormonal, imaging, cardiovascular, eye etc)Others (hormonal, imaging, cardiovascular, eye etc)
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Marfan-arachnodactylyMarfan-arachnodactyly
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Soto's syndromeSoto's syndrome
rare genetic disorder with excessive physical rare genetic disorder with excessive physical growth during the first 2 to 3 years of life. growth during the first 2 to 3 years of life.
mild mental retardation, delayed motor, mild mental retardation, delayed motor, cognitive, and social development, hypotonia cognitive, and social development, hypotonia (low muscle tone), and speech impairments. (low muscle tone), and speech impairments.
large at birth, large heads (macrocrania) large at birth, large heads (macrocrania) disportionately large and long head with a disportionately large and long head with a
slightly protrusive forehead, large hands and slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased feet, hypertelorism (an abnormally increased distance between the eyes), and downslanting distance between the eyes), and downslanting eyes. eyes.
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Klinefelter syndromeKlinefelter syndrome
Tall statureTall statureChromosom : 47, XXYChromosom : 47, XXYTend to gynecomastia, Ca. mammaeTend to gynecomastia, Ca. mammaeMicropenis, infertilityMicropenis, infertility
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TherapyTherapy
CausalCausalConstitutional Tall statureConstitutional Tall stature
reassurancereassuranceBoys: testosterone 500mg/m2/monthBoys: testosterone 500mg/m2/monthGirls: estradiol 0,1 mg/dayGirls: estradiol 0,1 mg/day
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PENDEKATAN DIAGNOSIS GANGGUAN PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPERTUMBUHAN
Kreteria awal untuk pemeriksaan lebih lanjut :Kreteria awal untuk pemeriksaan lebih lanjut :1.1. Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-
rata untuk umur kronologisnyarata untuk umur kronologisnya2.2. Kecepatan tumbuh dibawah persentil ke 25 kurva Kecepatan tumbuh dibawah persentil ke 25 kurva
kecepatan tumbuh atau kurang dari 4 cm /tahun pada kecepatan tumbuh atau kurang dari 4 cm /tahun pada anak berumur 4-10 bulan.anak berumur 4-10 bulan.
3.3. Prakiraan tinggi dewasa dibawah potensi tinggi Prakiraan tinggi dewasa dibawah potensi tinggi genetiknya.genetiknya.
4.4. Kecepatan tumbuh melambat setelah umur 3 tahun Kecepatan tumbuh melambat setelah umur 3 tahun dan turun menyilang garis persentilnya pada kurva dan turun menyilang garis persentilnya pada kurva panjang/tinggi badan .panjang/tinggi badan .
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PENDEKATAN DIAGNOSIS GANGGUAN PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPERTUMBUHAN
ANAMNESISANAMNESIS
Riwayat perinatal, panjang / berat lahir, trauma Riwayat perinatal, panjang / berat lahir, trauma lahirlahir
Riwayar tumbuh kembangRiwayar tumbuh kembang
Asupan nutrisiAsupan nutrisi
Riwayat penyakitRiwayat penyakit
Lingkungan psikosoaialLingkungan psikosoaial
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PENDEKATAN DIAGNOSIS GANGGUAN PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPERTUMBUHAN
PEMERIKSAAN FISIKPEMERIKSAAN FISIK
Stigmata sindrom dismorfik / kromosomStigmata sindrom dismorfik / kromosom
Tingkat kecerdasanTingkat kecerdasan
Tanda / gejala penyakit sistemikTanda / gejala penyakit sistemik
Tanda KEPTanda KEP
Tingkat maturasi kelaminTingkat maturasi kelamin
AntropometriAntropometri
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PENDEKATAN DIAGNOSIS PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANGANGGUAN PERTUMBUHAN
FT4, TSHFT4, TSH LED, darah rutin (LED, darah rutin (CBC)CBC) Elektrolit, BUN, creatinin, urinalisis, Elektrolit, BUN, creatinin, urinalisis,
tinjatinja Skrining TBC Skrining TBC Umur tulang (Umur tulang (bone age)bone age) Rujuk untuk pemeriksaan GH / IGF-1Rujuk untuk pemeriksaan GH / IGF-1
PEMERIKSAAN PENUNJANG
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ACHONDROPLASIA
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HIPOTIROID DIDAPAT
HIPOTIROID KONGENITA
L
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KESIMPULANKESIMPULAN
Pertumbuhan menggambarkan keadaan Pertumbuhan menggambarkan keadaan kesehatan seorang anakkesehatan seorang anak
Pemantauan pertumbuhan memerlukan Pemantauan pertumbuhan memerlukan pengukuran teratur dengan alat yang tepat,pengukuran teratur dengan alat yang tepat,
penting interpretasi hasil pemantauanpenting interpretasi hasil pemantauan Perlu diingat bahwa gangguan pertumbuhan Perlu diingat bahwa gangguan pertumbuhan lebih sering disebabkan oleh kelainan non-lebih sering disebabkan oleh kelainan non-
endokrinendokrin