17 Infants diagnosed clinically after false negative cystic fibrosis newborn screening may present with Pseudo-Bartter's-syndrome

Introduction. Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's syndrome. In most patients reported symptoms began in infancy, but it may be an initial presentation of disease in a previously healthy adolescent. Case report. A 15-year-old boy was admitted for evaluation of recurrent episodes of malaise associated with dehydration and acute renal insufficiency. Laboratory analysis showed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. On admission the boy was obese, with body weight of 95.5 kg (> P97), height 174 cm (> P75), and body mass index of 31.2 kg/m2 (> P95). Physical examination was inconclusive. Blood pressure holter monitoring proved significant systolic hypertension. Routine urinalysis, protein and electrolyte levels in urine were normal. Plasma renin and aldosteron were normal. Sweat chloride concentration was 63 mmol/L. Genetic testing confirmed the diagnosis of cystic fibrosis. Conclusion. To our knowledge, this is the first reported case of atypical presentation of cystic fibrosis in an adolescent presented with pseudo-Bartter's syndrome and signs of obesity and hypertension. We suggest that every patient with hypochloremic metabolic alkalosis should be evaluated for cystic fibrosis.

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P019 Late diagnosis of cystic fibrosis as a consequence of normal IRT concentration in Newborn Screening for Cystic Fibrosis - false negative

Journal of Cystic Fibrosis ◽

10.1016/s1569-1993(20)30356-8 ◽

2020 ◽

Vol 19 ◽

pp. S60

Author(s):

K. Zybert ◽

U. Borawska-Kowalczyk ◽

M. Dawidziuk ◽

M. Mielus ◽

M. Ołtarzewski ◽

...

Keyword(s):

Cystic Fibrosis ◽

Newborn Screening ◽

False Negative ◽

Late Diagnosis

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The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil

Cadernos de Saúde Pública ◽

10.1590/0102-311x00049719 ◽

2020 ◽

Vol 36 (10) ◽

Author(s):

Léa Maria Zanini Maciel ◽

Patrícia Künzle Ribeiro Magalhães ◽

Ieda Regina Lopes Del Ciampo ◽

Maria Luísa Barato de Sousa ◽

Maria Inez Machado Fernandes ◽

...

Keyword(s):

Cystic Fibrosis ◽

Newborn Screening ◽

Screening Program ◽

False Negative ◽

Clinical Manifestations ◽

Sao Paulo ◽

São Paulo ◽

Court Order ◽

Paulo State ◽

São Paulo State

The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.

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Characteristics of cystic fibrosis patients diagnosed after false negative cystic fibrosis newborn screening results

10.1183/13993003.congress-2019.pa4523 ◽

2019 ◽

Author(s):

Pinar Ergenekon ◽

Emine Atag ◽

Nilay Bas İkizoglu ◽

Cansu Yilmaz Yegit ◽

Yasemin Gokdemir ◽

...

Keyword(s):

Cystic Fibrosis ◽

Newborn Screening ◽

False Negative

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Case of Pseudo-Bartter's Syndrome: An atypical presentation of cystic fibrosis

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v31i2.3911 ◽

2011 ◽

Vol 31 (2) ◽

pp. 121-123 ◽

Cited By ~ 1

Author(s):

Enayatollah Nemat Khorasani

Keyword(s):

Cystic Fibrosis ◽

Key Words ◽

Metabolic Alkalosis ◽

Atypical Presentation ◽

Bartter’S Syndrome ◽

Bartter's Syndrome ◽

In The Beginning

A three months infant who in the beginning had disease cystic fibrosis was diagonosed with pseudo-bartter's syndrome. The disease began with coughing, diarrhoea, vomiting and weakness. Investigation revealed; electrolytes showin hyponatremia (110 mmol/L) and hypokalemic (2.6 mmol/L) and hypochloremic (63 mmol/L) metabolic alkalosis (HCO3=43 mmol/L). Key words: Pseudo Bartter's Syndrome; Cystic fibrosis; Metabolic alkalosis. DOI: 10.3126/jnps.v31i2.3911 J Nep Paedtr Soc 2010;31(2):121-123

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