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GANGGUAN PERTUMBUHAN PADA ANAK
Gangguan pertumbuhanPerawakan normalpertumbuhan terganggu
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Gangguan pertumbuhanPerawakan pendekpertumbuhan normal
97
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ETIOLOGI PERAWAKAN PENDEK
Perawakan pendek dapat disebabkan oleh kelainan endokrin ataupun non endokrin sepertiGenetik atau familialKelainan kromosom atau sindrom tertentuPenyakit kronisGangguan giziDeprivasi psikososialSkeletal disorderIntra Uterine Growth Retardation (IUGR)Constitutional Delay of Growth and Pubeerty (CDGP)Kelainan endokrin : defisiensi GH, Hipotiroidisme, dll.
PERAWAKAN PENDEKYAPATOLOGISKECEPATAN TUMBUH NORMAL?TIDAKVARIAN NORMALPROPORSI ?DISMORFISM ?BB/TB?
PERAWAKAN PENDEKPATOLOGISPROPORSIONALBB/TB ENDOKRINDEFISIENSI GHHIPOTROIDKORTISOLPSEUDOHIPOPARATIROIDBB/TB MALNUTRISIINFEKSI KRONISPENYAKIT KRONIS (ORGANIK)PSIKOSOSIALIUGRKELAINAN DISMORFIKDISPROPORSIONAL
PERAWAKAN PENDEKPATOLOGISKELAINAN DISMORFIKDISPROPORSIONALDISPLASIA TULANGA/HIPO CHONDROPLASIAKELAINAN METABOLIKRICKETSGANGGUAN SPINALRADIASI KRANIOSPINALSPONDYLODYSPLASIAKELAINAN KROMOSOMTRISOMI 21SINDROM TURNERSINDROM-SINDROM ( IUGR)FETAL ALCOHOL, RUSSELL-SILVER, PRADER-WILLI, NOONAN, SECKEL, de LANGE, LARON, COCKAYNE dll
PERAWAKAN PENDEKVARIAN NORMALFAMILIAL SSCONSTITUTIONAL DELAY OF GROWTH AND PUBERTYUSIA TULANG = USIA KRONOLOGISTINGGI DEWASA < PERSENTIL-3SESUAI POTENSI GENETIK
USIA TULANG < USIA KRONOLOGISTINGGI DEWASA > PERSENTIL-3SESUAI POTENSI GENETIKRIWAYAT KELUARGA (+)
Pola-pola pertumbuhan linier
Pola-pola pertumbuhan linier
Sindrom Turner (ST)Tinggi dewasa 137-146.8 cmEtiologi perawakan pendekaksis longitudinal tubuh gangguan tulang panjang lebih berat dari vertebra(Lippe, 1993)Rosenfeld et al (1994)Pemberian dini terapi GHKombinasi GH + oxandroloneEstrogen induksi pubertas
PenatalaksanaanFamilial short stature : tidak diterapiConstitutional delay of growth and puberty (CDGP): tidak diterapiTergantung kausal : nutrisi, infeksi, dllHormonal : GH, tiroid, sex steroidDysproporsional SS : achondroplasia, osteogenesis imperfecta, sindr. Down, dll; tidak diterapi
Anak umur 5 tahun ,)
Tall Stature
IntroductionDefinition 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 growthCauseIntrinsic Acquired
Growth cessationPuberty sex steroid (estrogen) epiphyseal fusionBone ageGirls 14 16 yrsBoys 18 20 yrsSex steroid & growthLow dose: stimulateHigh dose: inhibit
Child Development recordA 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.
SoalData anak lelaki usia 7tahun 4 bulan : 110 cm; bone age 5 tahunusia 8 tahun : 114 cm; bone age; 6 tahunusia 9 tahun 6 bulan : 122 cm; bone age 7 tahunTinggi ayah 172 cm, tinggi ibu 166 cmIbu menarche 15 tahun EVALUASI PERTUMBUHAN ANAK INI!
Familial Short Stature
Constitutional Delay of Growth & Puberty
Normal Variant Short StatureFSSCDGDBone Age1 yr from CAPubertyOn timeDelayedFinal HeightShort Normal
Pathological short statureProportionate:IUGRsyndromeschronic illnessdrugspsychsocial deprivationDisproportionate: Syndromes (partic Turner S)hypothyroidismSkeletal dysplasias
Turner SyndromeConsider 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 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.
Familial genetic tall stature / constitutional Cerebral gigantism (Sotos syndrome) Marfan syndrome Homocystinuria Multiple endocrine neoplasia type 2bIntrinsic tall stature
Chromosome 47, XYY; Klinefelter syndrome (46, XXY); Fragile X syndromeBeckwith-Wiedemann syndrome (IGF2)Weaver syndromeSimpson-Golabi-Behmel syndrome (GPC3)Bannayan-Riley-Ruvalcaba syndrome (PTEN)Deficiency of aromatase/loss of function mutations of estrogen receptor (a) in maleIntrinsic tall stature
Infant of diabetic mother (hyperinsulinism)Obesity (tall child normal adult height)Sexual precocity (tall child but short adult)Primary hypogonadism (eunuchoid)HyperthyroidismGrowth hormone excess (Gigantism, acromegaly)Acquired tall stature
Evaluation History & PEFamily history (constitutional, Marfan, familial precox etc)Developmental historyBirth weight and lengthStigmata of syndromePubertal status
Evaluation LabGrowth patternParallel or notPotential genetic heightBone age (prediction of final height)As indicatedChromosome Mutation analysisOthers (hormonal, imaging, cardiovascular, eye etc)
Marfan-arachnodactyly
Soto's syndromerare 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 syndromeTall statureChromosom : 47, XXYTend to gynecomastia, Ca. mammaeMicropenis, infertility
TherapyCausalConstitutional Tall staturereassuranceBoys: testosterone 500mg/m2/monthGirls: estradiol 0,1 mg/day
PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANKreteria awal untuk pemeriksaan lebih lanjut :Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-rata untuk umur kronologisnyaKecepatan tumbuh dibawah persentil ke 25 kurva kecepatan tumbuh atau kurang dari 4 cm /tahun pada anak berumur 4-10 bulan.Prakiraan tinggi dewasa dibawah potensi tinggi genetiknya.Kecepatan tumbuh melambat setelah umur 3 tahun dan turun menyilang garis persentilnya pada kurva panjang/tinggi badan .
PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANANAMNESISRiwayat perinatal, panjang / berat lahir, trauma lahirRiwayar tumbuh kembangAsupan nutrisiRiwayat penyakitLingkungan psikosoaial
PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHANPEMERIKSAAN FISIKStigmata sindrom dismorfik / kromosomTingkat kecerdasanTanda / gejala penyakit sistemikTanda KEPTingkat maturasi kelaminAntropometri
PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN FT4, TSH LED, darah rutin (CBC) Elektrolit, BUN, creatinin, urinalisis, tinja Skrining TBC Umur tulang (bone age) Rujuk untuk pemeriksaan GH / IGF-1PEMERIKSAAN PENUNJANG
ACHONDROPLASIA
HIPOTIROID DIDAPATHIPOTIROID KONGENITAL
KESIMPULANPertumbuhan menggambarkan keadaan kesehatan seorang anakPemantauan pertumbuhan memerlukan pengukuran teratur dengan alat yang tepat, penting interpretasi hasil pemantauanPerlu diingat bahwa gangguan pertumbuhan lebih sering disebabkan oleh kelainan non-endokrin
*Slide 15. Height Velocity This is the growth velocity curve that we use in our clinic where growth rates are not normal or not consistent during childhood. Year after year, children are normally growing slower than they did the year before. This green line, which is the constitutional growth delayed child, is exaggerated, and you can see a more pronounced prepubertal growth deceleration with attainment of final height, which is close to normal at the end.