Pseudohypoaldosteronism (PHA) type l is a rare neonatal disease characterized by salt wasting, dehydration, hyperkalemia and metabolic acidosis. It is unresponsive to mineralocorticoid treatment with elevated aldosterone concentration. The three different modes of inheritance has been described. The autosomal dominant form has a mild clinical course and gradually improves with age. In this form, resistance to aldosterone seems to be restricted to the kidney. The autosomal recessive form displays generalized aldosterone resistance including kidney, colon, lung, sweat and salivary gland system. This form is more severe and requires life-long supplement with high-dose salt. The sporadic form is mild and resembles the autosomal dominant form. In this paper, we describe a male patient diagnosed as PHA type l at the age of 19 months. He presented with recurrent vomiting, diaphoresis accompanying hyponatremia, hyperkalemia, metabolic acidosis, elevated plasma renin activity and aldosterone level. Ultimately he has improved with treatment by oral sodium bicarbonate.
Acidosis ; Aldosterone ; Colon ; Dehydration ; Humans ; Hyperkalemia ; Hyponatremia ; Kidney ; Lung ; Male ; Plasma ; Pseudohypoaldosteronism* ; Renin ; Salivary Glands ; Sodium Bicarbonate ; Sweat ; Vomiting ; Wills

PURPOSE: We studied the value of clinical signs, laboratory findings and (99m)technetium dimercaptosuccinic acid(DMSA) scan in predicting the presence of vesicoureteral reflux(VUR) in children with first febrile urinary tract infection(UTI). METHODS: A retrospective analysis of 84 hospitalized children with first febrile UTI was performed. They underwent DMSA scan and voiding cystourethrography(VCUG) during the acute phase, and were divided into three groups according to the results of the VCUG: absence of VUR, mild(grade I-II) and severe VUR(grade III-V). We studied the relation of VUR to age, gender, fever duration, causative organism, white blood cell count, serum C-reactive protein and result of DMSA scan. RESULTS: Among 84 patients, 6 had mild and 17 had severe VUR. Thirty-eight had abnormal DMSA scan. results Patients with VUR were older than those without VUR(P<0.01). There was a lower probability of infection with Escherichia coli in patients with severe VUR than in those with mild and absent VUR(P<0.01). An abnormal DMSA scan correlated with the presence and severity of VUR(P<0.05). Severe VUR was present in 10.9% of patients with normal DMSA scan. The sensitivity, specificity, positive and negative predictive values of the DMSA scan in predicting the presence of VUR were 69.6%, 63.9%, 42.1%, and 84.8%, respectively. CONCLUSION: An abnormal DMSA scan correlated to the presence and severity of VUR, but the sensitivity, specificity and positive predictive value of the DMSA scan were low. Therefore, patient with an abnormal DMSA scan requires a VCUG. In order to prevent missing the 10.9% of patients with severe VUR but normal DMSA scans, a VCUG should be performed in patient with normal DMSA scan.
C-Reactive Protein ; Child* ; Child, Hospitalized ; Escherichia coli ; Fever ; Humans ; Leukocyte Count ; Retrospective Studies ; Sensitivity and Specificity ; Succimer ; Urinary Tract Infections* ; Urinary Tract* ; Vesico-Ureteral Reflux