GITELMAN SYNDROME

GITELMAN SYNDROME



  • Autosomal recessive
  • Defect in "Na ๋- Cl￣ cotransporter and TRPM6 transporter" in DCT(distal convoluted tubules)
  • Hallmark feature: salt wasting and polyuria


CLINICAL FEATURE:

  • Antenatal H/O: Polyhydramnios
  • failure to thrive
  • Dehydration:sunken AF(anteriofrontal) /delayed skin pinched
  • Diaper change frequency ↑
  • GFR↓,Renin↑,Aldosterone↑
  • sluggish MORO/poor cry - k+↓
  • metabolic alkalosis
  • Mg+ wasting : release of PTH↓ - Hypocalcemia(tetany)




WORKUP:

  • Serum electrolyte: Na+↓,k+↓
  • Urine osmolality: Low , decrease
  • 24 hour urinary chloride: ↑ (IOC)
  • Serum Mg+: ↓↓


TREATMENT:


  • No definitive treatment




Clinical profile of Thiazide diuretic is similar to Gitelman syndrome

Comments

Post a Comment

Popular posts from this blog

METABOLIC ALKALOSIS (electrolyte imbalance)

Image
METABOLIC ALKALOSIS It is a metabolic condition in which the PH of tissue is elevated beyond the normal range (7.35-7.45) In chronic vomiting, loss of water + HCL(Hypochloremia) ↓ Dehydration ↓ GFR decreased and the activation of RAAS(renin angiotensin aldosterone system) ↓  increase aldosterone ↓ Hypokalemic hypochloremic metabolic alkalosis CAUSES: Congenital hypertropic pyloric stenosis Ca stomach Healed peptic ulcer disease TREATMENT: Normal saline(0.9%) - so it is saline/chloride responsive metabolic alkalosis but if still PH > 7.55 in spite of fluids give NH4CL (Ammonium chloride)  HYPOKALEMIC METABOLIC ALKALOSIS - CHLORIDE NON RESPONSIVE METABOLIC ALKALOSIS CAUSES :  Nephrotic syndrome protein losing enteropathy eg: celiac sprue CHF Cirrhosis TREATMENT: Spironolactone and restrict salt intake
Read more

CONGENITAL NEPHROTIC SYNDROME

Image
CONGENITAL NEPHROTIC SYNDROME It is a rare kidney disease which manifests in infants during the first 3 months of life and it characterized by high level of proteins in urine - NPHS1 gene - Nephrin decreased zipper mechanism block defect - NPHS2 gene - Podocin decreased (bad prognosis) CLINICAL FEATURES: Non immune hydrops fetalis Anasara Foamy urine WORKUP: 24 hrs urinary protein = increased = >40mg/m2 BSA Serum albumin - decreased TREATMENT: Daily albumin infusion Steroids
Read more

HYPOKALEMIA(electrolyte imbalance)

Image
HYPOKALEMIA It is a low level of potassium(k ๋) in blood serum normal potassium level 3.5 - 5mmol/L Death can occur due to  respiratory muscle paralysis CAUSES: Decrease intake Alkalosis : Potassium shift into cells Sympathomimetics stimulation - trauma, thyrotoxic periodic paralysis, beta 2 agonist toxicity(salbutamol) Renal loss - excess aldosterone = conn's syndrome,bilateral adrenal hyperplasia, ascites , CHF                   - Barter's , Gitelman syndrome                                                                                                       - Salt wasting nephropathy                    ...
Read more