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RENAL TUBULAR ACIDOSIS CASE HISTORY.pptx
- 1. CASE PRESENTATION BY DR SAMAMA DEEN Supervised by Dr Shabeeta
- 2. CASE HISTORY • A 3 years old female child weight 8.8 kgs admitted via OPD with Failure to gain weight Unable to stand and walk
- 3. HOPC • Recurrent history of admission due to dehyration and fever • History of admission due to resp distress • Multiple opd visits because of bony deformities and failure to thrive
- 4. PAST MEDICAL HISTORY: Multiple admissions due to similar complaints PAST SURGICAL HISTORY: • Not significant BIRTH HISTORY: no history of polyhydroamnios Full term pregnancy No history of neonatal jaundice BLOOD TRANSFUSION/ ALLERGIC HISTORY Not significant
- 5. IMMUNIZATION HISTORY Completedly vaccinated according to EPI DEVELOPMENTAL HISTORY Gross motor 10 months Fine motor /social /speech /hearing is up to age NUTRITIONAL HISTORY Increased water intake and therefore decreased food intake Total caloric intake is about 800-1000 Kcal/day
- 6. • FAMILY HISTORY • • SOCIO ECONOMIC HISTORY • Unsignificant history 3 YEAR 2 YEAR
- 7. GENERAL PHYSICAL EXAMINIATION GENERAL PHYSICAL APPERANCE A malnourished child having signs of florid rickets ,not in resp distress VITALS BP =88/56mmhg (90th centile) HR=103/m R.R=25/m Temp= 98.5 F Sao2= 96%
- 8. ANTHROPOMETRIC MEASUREMENTS Weight = 8.8kg (<3rd centile) Height = 74cm (<5th centile) OFC= 45cm (<3rd centile) MUAC = 10cm
- 9. SYSTEMIC EXAMINATION ABDOMINAL EXAMINATION Liver Soft nontender, liver is palpable 6cm below right subcostal margin having irregular border ,rough surface and firm in consistency. Upper border of liver is in 5th ICS and the total span of liver is 10 cm. Spleen is palpable 4cm below left subcostal margin ,nontender,firm in concistency . Signs of free fluid . Negative
- 10. • CNS EXAMINATION • Unremarkable • CVS EXAMINATION • Unremarkable • RESPIRATORY EXAMINATION • Unremarkable
- 11. DIFFERENTIAL DIAGNOSIS RENAL TUBULAR ACIDOSIS HYPOPHOSPHATEMIC RICKETS VIT D RESISTANT RICKETS
- 12. Urea, Creatinine and Electrolytes Test Result meq/l Reference range meq/l Sodiun 135 135-145 Potassium 1.4 3.5- 5.5 Chloride 117 8-107 Bicarbonate 8 22-28 Anion Gap 10 Urea 14mg/dl 15-45 Creatinine 0.3mg/dl
- 13. Bone Biochemistry Test Result Reference range Calcium 8.6 mg/dl Phosphorus 0.7mg/dl Alkaline phosphatase 1880 IU/L 25:Vitamin D 55 1:25 HO Vitamin D 27 PTH 221
- 14. Urine detailed report urine colour yellow urine appearance clear Specific gravity 1.017 PH 5.2 Protein +2 Glucose 56mmol/l Ketone -ve billirubin -ve leucocyte estrase -ve Nitrite -ve leucocyte 2-4HPF red blood cell occasional HPF
- 15. Urine electrolytes Sodium 35 Potassium 32 chloride 85 Urine Anion GAP -18
- 16. DIAGNOSIS PROXIMAL RENAL TUBULAR ACIDOSIS (FANCONI SYNDROME)
- 17. FUTHER WORKUP FOR ETIOLOGY OF p.RTA • TYROSINEMIA WORK UP • URINE CR=1.30mmol/L • URINE SUCCINYLLACTONE=31.52mmol/mol cr • SERUM ALPHA FETO-PROTEIN=6704 • SUGGESTING PROXIMAL RENAL TUBULAR ACIDOSIS SECONDARY TO TYROSINEMIA TYPE 1
- 18. MANAGEMENT .TAB SODAMINT .SYP K PHOS .TAB CALCITRIOL .PHENYLALANINE AND TYROSINE FREE DIET .REFERED TO GASTROENTEROLOGIST FOR FUTHER MANAGEMENT
- 19. FOLLOW UP MONITORING • GROWTH PARAMETERS • SERUM ELECTROLYTES • URINE Ca /Cr RATIO • SERUM PTH LEVELS • U/S KUB FOR NEPHROCALCINOSIS
- 20. THANK YOU