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GANGGUAN PERTUMBUHAN PADA ANAK

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  1. GANGGUAN PERTUMBUHAN PADA ANAK

  2. Gangguan pertumbuhan • Perawakan normal • pertumbuhan terganggu

  3. Gangguan pertumbuhan • Perawakan pendek • pertumbuhan normal

  4. 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.

  5. PERAWAKAN PENDEK KECEPATAN TUMBUH NORMAL? YA TIDAK VARIAN NORMAL PATOLOGIS PROPORSI ? DISMORFISM ? BB/TB?

  6. PERAWAKAN PENDEK PATOLOGIS PROPORSIONAL DISPROPORSIONAL BB/TB  BB/TB  KELAINAN DISMORFIK • ENDOKRIN • DEFISIENSI GH • HIPOTROID • KORTISOL • PSEUDOHIPOPARATIROID • MALNUTRISI • INFEKSI KRONIS • PENYAKIT KRONIS (ORGANIK) • PSIKOSOSIAL • IUGR

  7. PERAWAKAN PENDEK PATOLOGIS KELAINAN DISMORFIK DISPROPORSIONAL • 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

  8. PERAWAKAN PENDEK VARIAN NORMAL CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY FAMILIAL SS • USIA TULANG = USIA KRONOLOGIS • TINGGI DEWASA < PERSENTIL-3 • SESUAI POTENSI GENETIK • USIA TULANG < USIA KRONOLOGIS • TINGGI DEWASA > PERSENTIL-3 • SESUAI POTENSI GENETIK • RIWAYAT KELUARGA (+)

  9. Pola-pola pertumbuhan linier

  10. Pola-pola pertumbuhan linier

  11. 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

  12. 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

  13. Anak umur 5 tahun ,)

  14. Tall Stature

  15. 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

  16. 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

  17. 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 records.

  18. 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.

  19. 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 tahunEVALUASI PERTUMBUHAN ANAK INI!

  20. Familial Short Stature

  21. ConstitutionalDelay of Growth & Puberty

  22. Normal Variant Short Stature FSS CDGD Bone Age <1 yr from CA >1 yr from CA Puberty On time Delayed Final Height Short Normal

  23. Pathological short stature Proportionate: IUGR syndromes chronic illness drugs psychsocial deprivation Disproportionate: Syndromes (partic Turner S) hypothyroidism Skeletal dysplasias

  24. 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 MPHs. Approx 10% become short adults.

  25. 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.

  26. 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.

  27. Intrinsic tall stature • Familial genetic tall stature / constitutional • Cerebral gigantism (Soto’s syndrome) • Marfan syndrome • Homocystinuria • Multiple endocrine neoplasia type 2b

  28. Intrinsic tall stature • 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

  29. Acquired tall stature • 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)

  30. Evaluation – History & PE • Family history (constitutional, Marfan, familial precox etc) • Developmental history • Birth weight and length • Stigmata of syndrome • Pubertal status

  31. Evaluation – Lab • Growth pattern • Parallel or not • Potential genetic height • Bone age (prediction of final height) • As indicated • Chromosome • Mutation analysis • Others (hormonal, imaging, cardiovascular, eye etc)

  32. Marfan-arachnodactyly

  33. 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.

  34. Klinefelter syndrome • Tall stature • Chromosom : 47, XXY • Tend to gynecomastia, Ca. mammae • Micropenis, infertility

  35. Therapy • Causal • Constitutional Tall stature • reassurance • Boys: testosterone 500mg/m2/month • Girls: estradiol 0,1 mg/day

  36. PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN Kreteria awal untuk pemeriksaan lebih lanjut : • Tinggi badan lebih dari 2,5 dibawah tinggi badan rata-rata untuk umur kronologisnya • Kecepatan 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 .

  37. PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN ANAMNESIS Riwayat perinatal, panjang / berat lahir, trauma lahir Riwayar tumbuh kembang Asupan nutrisi Riwayat penyakit Lingkungan psikosoaial

  38. PENDEKATAN DIAGNOSIS GANGGUAN PERTUMBUHAN PEMERIKSAAN FISIK Stigmata sindrom dismorfik / kromosom Tingkat kecerdasan Tanda / gejala penyakit sistemik Tanda KEP Tingkat maturasi kelamin Antropometri

  39. 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-1 PEMERIKSAAN PENUNJANG

  40. ACHONDROPLASIA

  41. HIPOTIROID DIDAPAT HIPOTIROID KONGENITAL

  42. 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