Rickets and liver disease

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Rickets and liver disease

  1. 1. Rickets and Liver Disease Presenter: B J Wadia Children’s Hospital, Mumbai Abhamoni Baro – Moderator: S K Yachha – Pediatric Gastroenterologist, SGPGI, Lucknow Panelists: Archana Kher – Pediatrician, Columbia Asia, Pune Seema Alam – Pediatric Hepatologist, ILBS, New Delhi Girish Gupte – Pediatric Hepatologist, Birmingham Children's Hospital, UK
  2. 2. Rickets and liver disease Dr. Abhamoni Baro B. J. Wadia Hospital for children
  3. 3. • 13 years old boy • Pain in knee joints -4years • Difficulty in walking and standing -4 years • Progressive deformity of right knee -2years • Swelling of Knee and ankle -1year
  4. 4. • • Treated as Oligoarticular JIA in 2011 with 2 months steroids • No h/o -morning stiffness -Fever -Polyuria -Trauma -Chronic diarrhoea -Jaundice -weight loss -Chronic drug intake -Repeated fracture • Prior growth and development – normal • Birth history, family history not contributory
  5. 5. On examination • Wt: 32kgs (<3rd centile ) • Vitals stable • Pallor + B/L wrist widening Normal dentition -Ht:154cm(10th centile) -No Icterus -No LN -No signs of bleeding -No sternal tenderness • Dull apathetic facies (on enquiry – declining scholastic performance ) • P/A- Splenomegaly (3 cm) ,no hepatomegaly/ascites No stigmata of liver cell failure • CNS-Wasting of right quadriceps muscle ,power(LL)-4/5 Gait-wide based gait Locally- Genu valgum (right), Genu Varus (left) ,tenderness+ • Other systems -WNL
  6. 6. GENU VALGUM
  7. 7. What are the differentials?
  8. 8. Investigations Test Result TESTS Results Hb 8.8 gm% TLC 3000/cumm SGOT/SGPT(IU/ 44 / 40 L) DC N 43 ANC 1260 Platelet PS 0.6 PT/PTT Normal 43000 Total protein 7.4 gm% pancytopenia Albumin 4.4gm% BUN/Creat(mg %) 10 / 0.4 SE(Na/K/cL) mmol/L 139/4 /108 25OH vit D Ca/ionic ca Bilirubin(mg%) 68.60 ng/ml PTH (pg/ml) 7.36 (12-76) 8.4 Phosphor us 2 Alk.Phos. 1571 ESR L 55 / 1.10 mg/dl 5 mm E2 mg/dl IU/L
  9. 9. Work-up revealed RTA Test Venous blood PH HCO3 Anion gap Result Repeat 7.36 7.39 15.5 mmol/L →18.5 13 15 Urine PH /sp gr 7.5 / 1030 U.protein/sugar Negative Urine albumin /creat 0.28 Urine ca/creat 0.53 24 hr urine calcium → 0.4 mg/kg/day →
  10. 10. • USG abdomen/portal Doppler - Liver parenchymal disease ,splenomegaly with early changes of portal hypertension • Impression: Chronic liver disease with pancytopenia (hypersplenism)
  11. 11. Work up for Wilson disease • Slit lamp examination- KF ring • Serum Ceruloplasmin-9.79 mg/dl (20-60) • 24 hr Urinary Copper-242 mcg/day
  12. 12. MRI Brain - Symmetrical signal abnormalities in basal ganglia, pons, midbrain and thalami, the “panda sign’’ was very well seen on Axial T2W images.
  13. 13. Final diagnosis • • • • • Osteoarticular Wilsons disease Portal hypertension Well compensated liver involvement Hypersplenism causing pancytopenia Mechanism of rickets with RTA is the possibility Hypoparathyroidism (low PTH ?) is unlikely in view of low phosphate, normal calcium and absence of clinical presentation of hypocalcaemia features
  14. 14. On follow up after 3 months Test Before After Hb(gm%) 8.8 12.6 TLC (per cu.mm) 3000 5000 /cu.mm ANC 1260 1850 Platelet 43000 57000 SGOT/SGPT 44/40 57/34 Ca/ ica 8.4/1.10 9 / 1.15 phosphorus 2 3.3 Alk. Phos. 1571 663 Ph 7.36 7.36 Hco3 15.5 17.8 AG 13 16 Urine Ph 7.5 6 Power of lower limbs improved Xray (R) Leg showed improving osteopenia Test Before After 24hr urine Cu(mcg/d) 242 939
  15. 15. Osteodystrophy in Wilson’s disease Prevalence in large series 0.9 (2/217) - 2.1% (6/282) Walshe et al. Handbook of Clinical Neurology,1986:223–238 Taly et al. Medicine 2007;82:112–121 Postulated mechanism: ✓ Renal tubular acidosis ✓ Hypoparathyroidism ✓ Hyperparathyroidism
  16. 16. Pathogenesis • Renal tubular acidosis (deposition of copper in tubules) • Hypoparathyroidism (deposition of copper in parathyroid) • Hyperparathyroidism • Secondary to renal dysfunction • Parathyroid adenoma (George et al .Clin. Chem. 1990 :36;3, 568-570)
  17. 17. Mechanism of osteodystrophy in Wilson disease Renal tubular acidosis ✓ Calcium low/normal ✓ Phosphate low ✓ ALP : high /normal ✓ PTH: high /normal ✓ Acidosis (Normal AG) ✓ Hypercalciuria ± ✓ Hypokalemia ✓ Urine glucosuria ✓ Aminoaciduria Common Hypoparathyroidism ✓ Calcium low Hyperparathyroidism ✓ Phosphate high ✓ Calcium: high ✓ ALP : low /Normal (ionised) ✓ PTH: low ✓ Phosphate : low/ N ✓ No Acidosis ✓ ALP : High /Normal ✓ Urine glucose ✓ PTH: High ✓ No Acidosis Rare
  18. 18. Conclusion In an intractable case of rickets, a careful search for underlying treatable conditions such as Wilson’s disease be performed.
  19. 19. Thank you
  20. 20. TEA BREAK 15 MINUTES

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