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G.S. Reusz First Department of Pediatrics Semmelweis University Budapest

Electrolytes and pH disturbances : clinical signs to make a correct diagnosis and an early treatment. G.S. Reusz First Department of Pediatrics Semmelweis University Budapest. Case 1. Six weeks old boy, Uncontrolled gestation. Delivery at home. No postnatal screening

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G.S. Reusz First Department of Pediatrics Semmelweis University Budapest

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  1. Electrolytes and pH disturbances : clinical signs to make a correct diagnosis and an early treatment G.S. Reusz First Department of Pediatrics Semmelweis University Budapest

  2. Case 1 • Six weeks old boy, • Uncontrolled gestation. Delivery at home. • No postnatal screening • BW: 2200g actually: 1920g • Admitted beause of failure to thrive, vomiting

  3. Physical aspect Signs of deydration (fontanelles, dry tongue, decreased turgor) Blood gases pH:7.18; pCO2:26 mmHg; aHCO3:9.7 mmol/l; BE-17.5 mmol/l Electrolytes Na:149 K:6,3 Cl:109 mmol/l Differential diagnosis? Pylorus stenosis? Alkalosis, hypokalemia congenital adrenal hyperplasia (CAH) = „pseudo-pylorus stenosis” Functional mineralocorticoid deficiency causes hyperkalemia Diabetes insipidus? Thirsty, polyuria, despite of dehydration, high Na, normal pH normal K, RTA low K (could be – type IV?) ARF-CRF Case 1First inspection + laboratory fidings

  4. RR: 126/70 Htk: 25% Ca:1.72 P:2.6 mmol/l Crea: 256 micromol/l Differential diagnosis? ARF? CRF? Laboratory data 2

  5. Physical examination Signs of deydration (fontanelles, dry tongue, decreased turgor) Bilateral abdominal masses US Enlarged hyperechogenic kidneys No sign of obstruction Dg: ARPKD CRF Dehydration Differential diagnosis Obstructive uropathy ? ARPKD? Other (Wilms tu, neuroblastoma) Question of dehydration Acute worsening of underlying CRF Elevated creatnine Prerenal component of azotemia Decreased GFR AND dehydration Physical exam. + US

  6. Directions of treatment Increase fluid intake Treat Acidosis Hypernatremia Anemia Ca-P metabolism Blood pressure Problems: NaHCO3 Sodium load CNS? Hypernatremia Treatment

  7. Long term treatment • NaHCO3: 8mmol/day • NaCl: 31.5mmol/day • Na total: 38.5 mmol=8.9 mmol/kg/day • calcitriol, calcium-carbonate • Treatment if BP: amlodipine • Erythropoetin

  8. Last control: • Blood gases pH:7.35; pCO2 mmHg: 42; aHCO3: 24 mmol/l; BE:-1.5 • electrolytes Na:135 K:3.8 mmol/l • Htk: 34% • Ca:2.2 P:1.5 mmol/l • Crea: 130 micromol/l • RR: 105/66 mmHg

  9. Comments

  10. Case 2 One month old boy admitted because of failure to thrive, vomiting, weight loss in the last 2 weeks. Uncomplicated gestation BW: 3300 g Family history: his brother died 3 years ago at the age of 6 month. He suffered from postnatal hypoxia, followed by „salt loosing kidney” and electrolyte inbalance Physical exam: severly dehidrated Fontanelle, tongue, turgor Alert, reacts to painful stimuly

  11. Laboratory data pH: 7.59, pCO2: 34 NaHCO3: 36.7 mmol/l BE: +12.9 mmol/l Na: 102, K: 2.1, Cl: 74 mmol/l, Ca: 2.67, P: 1.2 mmol/l osmolarity:243 mosmol/l Crea:48 micromol/l TP:55 alb:38g/l The dehydrated child has metabolic alkalosis with hyponatraemia, Hypochloraemia hypokalaemia

  12. Differential diagnsis 1. Pylorus stenosis Usually less severe; physical and US examination 2. Salt loosing kidney (ex: tubular dysfunction due to hydronephrosis, ATN, metabolic disease). Alkalosis? 3. Salt loosing form of adrenogenital syndrome But: Functional mineralocorticoid deficiency causes hyperkalemia 4. Hyponatremic, hypokalemic, hypochloremic alkalosis: Bartter syndromes

  13. Ion transport at the loop of Henle

  14. Pathophysiology of Bartter syndrome

  15. Treatment NaCl (10-15 mmol/kg/day) KCl(10mmol/kg/day) Indomethacin(2 mg/kg/day) Spironolacton(5 mg/kg/day) His somatic and mental development is normal Repeated need of hospitalization due to acute metabolic derailements following gastrointestinal and respiratory tract infections. Transient need of parenteral supplementation

  16. Comments

  17. Case 3 8 month old boy Admitted because vomiting, muscle weakness, lethargy History of failure to thrive

  18. Pysical aspect + lab Lethargic, severely dehidrated, Kussmaul-type breathing pH: 7.19, pCO2: 22 mmHg, NaHCO3: 10 mmol/l; BE: -19 mmol/l Na: 136, K: 3.1 mmol/l Ca: 1.9, P: 0.7 mmol/l ALP: 1359 U/l, Crea: 46 micromol/l

  19. First conclusions Acidosis Electrolyte imbalance K, Ca, P Normal creatinine Elevated ALP Next diagnostic steps?

  20. Urine Urine: pH: 7.9 Protein:+, glucose:++ Collected urine: FeNa: 3% TPR: 67% Acidosis, glycosuria, phosphate loss, aminoaciduria, proteinuria, hypercalciuria Dg: Fanconi syndrome

  21. 1930-ies: de Toni, Debré and Faconirenal rickets+glycosuria+hypophosphataemia =proximal tubular defect=aminoaciduriaglycosuria hyperphosphaturia-hypophosphataemiabicarbonate wastinghypokalaemiaproteinuria Clinical signs:polyuria, dehydration+disease-specific signs growth retardation, rickets, Fanconi syndrome

  22. Fanconi syndrome. Aetiology: Inherited cystinosis galactosaemia fructose intolerance tyrosinaemia Wilson’s disease Lowe sy glycogenosis cytochrome-c oxidase def. idiopathiic Acquired Lead poisoning Solvent inhalation Azathioprine Gentamycine Streptozocine myeloma multiplex Sjögren sy amyloidosis cysplatine iphosphamide transplantation

  23. Molecular mechanism of cystinosis Depletion of cystin by cysteamine A: healthy lysosome B: cystinotic lysosome C: treatment by cysteamine b a c

  24. Clinical picture: Usually blond children, with white skin. Latency of several month, then: polyuria, polydipsia, dehydration, acidosis, no weight gain 1-5g glycosuria, phosphate diabetes, gen. aminoaciduria, tubular proteinuria, acidosis seHCO3 12-15 mmol/l Rickets leucocyte-cystinemeasurement

  25. Clinical picture (cont) 3-6 y: photophoby(cornea-cristals+retina, blindness) 7-8 y: ESRD 5-10 y hypothyreosis 12-40 y myopathy, swallowing difficulties 13-40 y retina degeneration, blindness 18-40 y diabetes mellitus 18-40 y male hypogonadism 21-40 y lung dysfunction 21-40 y CNS calcification 21-40 y deterioration of CNS function

  26. 2 y

  27. Cornea cristals

  28. Rickets

  29. Treatment Fluid: 3-3.5 l = cca. 250 ml/kg K 350 mmol/day = 25 mmol/kg HCO3 300 mmol/day = 21.5 mmol/kg Ca 2x250 mg P Sandoz 4x500 mg Alpha-D3 50 microg/day Amilorid 1.25 mg HCTZ 12.5 mg L-Thyroxin 25 microg Folic acid/iron supplementation Cystagone 5x250 mg Cysteamin eye drops 5x /day

  30. Effectivenes off treatment Kidney function Growth Organ damage eye thyroidea Glucose metabolism gonads CNS

  31. Adequate treatment: n= 17 Partial treatment: n= 32 without therapy: n=67  Markello: N Engl J Med, Volume 328: 1993.1157-1162 GFR in function of age

  32. Kidney function and age Cysteamin - Cysteamin + Gahl: N Engl J Med, Volume 347(2).July 11, 2002.111-121

  33. Prognosis depends on early diagnosis and early treatment Early cysteamin treatment could prevent deterioration of kidney function Prevent the development of multiorgan damage Prevent complications secondary to Fanconi syndrome Late introduction of cysteamine treatment can only slow down progression of established renal disease In CRF: supportive treatment and transplantation

  34. Comments

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