A three-year-old girl diagnosed with pneumonia with parenchymal condensation in the right lower lobe.
There are no data of interest in the personal history.
Controlled pregnancy without incidents, born at 38 weeks of gestational age, cesarean section for lack of progression.
Weight at birth of 2870 g.
Vaccines and normal psychomotor development
They drink plenty of fluids from the first year of life, with abundant diuresis.
Weight and height in the 50th percentile.
They prefer salt avidity (drink beach water with avidity and prefer salty foods) and muscle cramps occasionally.
There is no family history to highlight.
Weight 12.4 kg (p10-25), height 95 cm (p50), blood pressure 100/60 mmHg, heart rate 90 bpm, respiratory rate 28 bpm, temperature 38.3 oC.
Regular general appearance by feverish facies, falls and mild dryness of mucous membranes.
Normal skull.
Negative meningeal signs.
There are no rashes or petechiae.
Otoscopy and normal oropharynx.
Upon auscultation, there was a decrease in air inflow on the right base.
Abdomen blando depresible, does not present masses or visceromegaly.
Normal girl genitals.
Normal lumbosacra region.
Rest of normal examination.
Analysis of infection parameters revealed leukocytosis of 22,000 with neutrophilia (neutrophils 87%) and C-reactive protein (CRP) of 200 mg/l, but highlights the hypokalaemia of
Renin and aldosterone were elevated.
Urine study was requested: density 1005, PH 8, normal sediment.
Urinary ions: K 17.5 mEq/l, Cl 10 mEq/l, Na 7 mEq/l; Urine/K urine 0.4.
High K (8.32%), Na (0.06%), and Cl (0.11%) values were considered normal.
Ca/Cr 0.56 mg/mg. Normal creatinine clearance, glomerular filtration 104.50 ml/min/1.73m2,
Renal ultrasound was normal and electrocardiogram (ECG) confirmed hypokalemia due to prolonged PR on ECG.
Diagnosis of right basal pneumonia, antibiotic treatment with intravenous cefuroxime was initiated and progressively improved clinically, radiologically and analytically.
Suspicion of tubulopathy was suspected due to hypokalemia and elevated urinary loss of this electrolyte. Treatment with intravenous potassium supplements was initiated and the figures were gradually corrected, 3.9 mmol K.
The patient was followed up in Pediatric Nephrology clinics, and the tubulopathy was confirmed genetically (Gutelman syndrome) and adequate serum K levels were maintained with oral supplements and diet rich in this electrolyte.
The patient has p.Gly741 and p.Cys994Tyr chromosome 16 variations, both in heterozygosis, in the SLC12A3 gene, located in the long arm of the
Autosomal recessive transmission.
Our patient, since diagnosis, receives a diet rich in potassium and magnesium and oral potassium supplements.
After several years of treatment, given the high doses of oral K supplements (4.3 mEq/kg/day) to maintain serum K levels 3.1-3.5 mmol/l, it was decided to associate potassium-sparing diuretic therapy.
On intravenous occasions, when confronted with episodes of diarrhea and vomiting, she presented symptomatic hypokalemia that required potassium supplements.
There are no data on hypomagnesaemia at any time, so you do not receive oral magnesium supplements, only a high-magnesium diet.
It is a permanent disease with favorable evolution and prognosis if treatment is adhered to.
