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Hindi Distal tubular acidosis about 90 children
Lamia Oukrif and Cherif N
Hospital University Center Isaad Hassani, Algeria
: J Nephrol Ren Dis
Abstract
90 patients with distal tubular acidosis were collected between 1989 and 2015. Dehydration by polyuria or by vomiting is the most reason for hospitalization. The sex ratio is 1.7. The average age at diagnosis is 06 months. The time to diagnosis is in half of the cases, more than 3 months, with 20% of patients diagnosed after the age of 1 year. The consanguinity is observed in 62% and the disease is familial in 50% of cases. We have 2 cases secondary to posterior urethral valves and 1 case secondary to polycystic kidney disease. Hypotrophy is present in 86% with rickets in 38% of cases. All patients have hyperchloremic metabolic acidosis with a normal anion gap contrasting with alkaline urine. Hypokalemia is present in 85% with hypophosphoremia in 17% of cases. Hypercalciuria and nephrocalcinosis are present in 90% with stones in 8% of cases. Renal function was normal in all patients. Genetic study was not possible. All patients received Sodium and/or potassium bicarbonate. 3 non-compliant patients died by dehydration. 40% of patients have early perception deafness. More than half wear a hearing aid, with improvement after speech therapy. A patient benefited from a cochlear implant. The treatment significantly improves the vital prognosis of the disease. But in majority of patients the growth is slowed down, explained by the delay in diagnosis, the frequency of severe forms with severe hypotrophy and rickets. Early deafness suggesting autosomal recessive inheritance by mutation of the ATP6B1 gene.
Biography
Lamia Oukrif has completed her medical studies at the age of 26 years from ALGIERS 1 University and Postdoctoral Studies from School of Medicine, BENYOUCEF BENKHEDDA University, Algeria. She has submitted her thesis in 2015. She is the head of unit of pediatric nephrology in pediatric B division in hospital university center ISAAD HASSANI Beni Messous Algiers. She has published more than 7 papers in reputed journals.
