Rickets and liver disease
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This document discusses the case of a 13-year-old boy presenting with rickets and liver disease who was ultimately diagnosed with Wilson's disease. The boy had knee and joint pain for 4 years along with difficulty walking and a progressively deformed right knee. Investigations revealed chronic liver disease, portal hypertension, pancytopenia from hypersplenism, and features of renal tubular acidosis. Further workup confirmed the diagnosis of neurologic Wilson's disease based on MRI findings and low ceruloplasmin levels. The patient showed improvement on penicillamine treatment. The document reviews potential mechanisms of osteodystrophy in Wilson's disease including renal tubular acidosis, hypoparathyroidism, and hyperpar
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Transcription
The flow of information in the cell starts at DNA, which replicates to form more DNA. Information is then ‘transcribed” into RNA, and then it is “translated” into protein.
Information does not flow in the other direction.
A few exceptions to the Central Dogma exist
some RNA viruses, called “retroviruses”.
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Here are the answers to the quiz questions:
1. Norepinephrine
2. A
3. B
4. A
5. B
6. A
7. B
8. A
9. A
10. A
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This document discusses the non-hepatic and non-neurological manifestations of Wilson's disease. It summarizes several studies that found the majority of Wilson's disease patients presented with hepatic or neurological symptoms, while a minority exhibited other manifestations. These included bone, joint, eye, heart, blood, kidney, skin and endocrine issues. Specifically, it notes that bone and joint pain can be early presenting symptoms and unexplained hemolysis in young adults should raise suspicion for Wilson's disease screening. The document concludes that while uncommon, recognition of non-hepatic manifestations is important for fully characterizing and managing Wilson's disease.
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Panel discussion: Developmental, speech, psychiatric and counseling issues - ...
The panel discussion focused on developmental, speech, psychiatric and counseling issues related to Wilson's disease. The panelists were experts in neurology, speech pathology, psychiatry and counseling. Key topics discussed included:
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This document discusses the differences between hepatic and neurological involvement in Wilson disease. It notes that the pathophysiology of how copper overload leads to liver vs. brain disease is not fully understood. The document then lists several clinical observations that may provide clues about the pathophysiology: 1) Not all copper overload syndromes affect both the liver and brain. 2) Neurological disease can sometimes occur without liver involvement in Wilson disease patients. 3) Copper chelating treatments can improve both liver and neurological symptoms.
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Genetic testing plays an important role in the diagnosis and management of Wilson disease (WD), though it cannot replace standard biochemical tests. In the presented cases:
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2) It was useful for family screening and managing a fulminant case.
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Genetic counseling was recommended for families planning pregnancy due
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Wilson's disease is treated with chelating agents like penicillamine or trientine to reduce copper levels over 6-12 months. Zinc is used long-term to maintain a negative copper balance. Patients require lifelong monitoring clinically and through liver enzymes and urinary/serum copper levels to determine treatment effectiveness, compliance, and adverse effects. Biochemical improvement can take variable times from months to years.
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Copper is an essential trace element that plays an important role in many biological processes as a co-factor in enzymes. Both copper deficiency and toxicity can cause disease. Copper homeostasis is tightly regulated in the body by transport proteins like ATP7A and ATP7B, as free copper above certain levels can be toxic. Genetic mutations in ATP7B can cause Wilson's disease, characterized by copper accumulation in tissues. While Indian Childhood Cirrhosis was once thought to be caused by excess copper intake, it has disappeared as copper utensils were replaced, suggesting other etiologies. There is increasing evidence for the role of copper in neurodegenerative diseases like Alzheimer's through oxidative stress mechanisms.
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Wilson's disease is a rare genetic disorder that causes copper to accumulate in the brain and other vital organs. MRI plays an important role in evaluating patients with suspected Wilson's disease. Key findings on MRI include signal changes in the basal ganglia, midbrain, pons, and cerebral white matter. Characteristic signs include T1 hyperintensity of the globus pallidus, the "face of the giant panda" sign, and CPM-like changes resembling osmotic demyelination. Serial MRI can show improvement in many patients responding to treatment, while extensive changes correlate with poorer prognosis. Advanced techniques like DTI reveal more widespread white matter abnormalities than conventional MRI and help assess disease severity.
Complications of drug therapy - Dr Malathi Sathiyasekaran
1) The document discusses various drug therapies for Wilson disease including penicillamine, zinc, trientine, and tetrathiomolybdate.
2) Penicillamine has severe side effects in 30% of patients including kidney toxicity, lupus-like syndrome, and bone marrow suppression. Its complications can be both direct chemical toxicity or immune-mediated.
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Rickets and liver disease
- 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. Rickets and liver disease Dr. Abhamoni Baro B. J. Wadia Hospital for children
- 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. • • 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. 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. GENU VALGUM
- 7. What are the differentials?
- 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. 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. • USG abdomen/portal Doppler - Liver parenchymal disease ,splenomegaly with early changes of portal hypertension • Impression: Chronic liver disease with pancytopenia (hypersplenism)
- 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. MRI Brain - Symmetrical signal abnormalities in basal ganglia, pons, midbrain and thalami, the “panda sign’’ was very well seen on Axial T2W images.
- 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. 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. 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. 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. 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. Conclusion In an intractable case of rickets, a careful search for underlying treatable conditions such as Wilson’s disease be performed.
- 19. Thank you