Sch J Appl Sci Res 2018 Volume 1: 4 Scholar Journal of Applied Sciences and Research A Case of Primary Pseudohypoaldosteronism Salavoura Katerina1 Kanaka Christina1 1Pediatric Clinic University of Athens, Childrens’ Hospital ‘Agia Sophia’, Greece Lykopoulou Euaggelia1 2Department of Genetics, University Hospital Paris, IdF West - HEGP Europe- 2 Zennaro Maria-Christina an Hospital, France Lazopoulou Despina1 Abstract Article Information Purpose: There is reported a case of a 5-month old boy diagnosed with Type I pseudohypoaldosteronism which is a rare salt-losing Article Type: Research disease caused by resistance of the target organs to aldosterone. Article Number: SJASR 134 Methods: Diagnosis was based on clinical presentation with frequent Received Date: 20 March, 2018 admissions from a young age due recurrent episodes of vomiting and Accepted Date: 26 June, 2018 wheezing as well as relevant electrolyte and hormone disturbances. It Published Date: 2 July, 2018 is interesting that during hospitalizations, the baby showed recurrent episodes of wheezing not responding to b-blockers and corticosteroids *Corresponding author: Dr. Salavoura Katerina, 1st Pediatric Clinic University of Athens, Childrens’ Hospital ‘Agia Sofia’, and dependence from daily oxygen supplementation. Molecular G. Papandreou 45, Goudi, 17533, Athens, Greece. Tel: investigation of the ECaN gene was normal. Conclusions: The systemic +306977592484; Email: [email protected] form of type I pseudoaldosteronism involves pulmonary dysfunction in addition to increased levels of aldosterone. Citation: Katerina S, Christina K, Euaggelia L, Maria- Christina Z, Despina L (2018) A Case of Primary Key words: Chronic wheezing, Pseudohypoaldosteronism. Pseudohypoaldosteronism. Sch J Appl Sci Res. Vol: 1, Issu: 4 (14 - 16). Introduction Type I pseudohypoaldosteronism is a salt-losing syndrome due Copyright: © 2018 Katerina S, et al. This is an open- to resistance of the target organs to aldosterone. Typical features of access article distributed under the terms of the Creative the disease include severe neonatal hyponatremia, hyperkaliemia, Commons Attribution License, which permits unrestricted metabolic acidosis and high serum aldosterone concentrations. use, distribution, and reproduction in any medium, provided the original author and source are credited. Two forms are described. The systemic one, which is inherited as an autosomal recessive trait, is the more severe. Multi-organ aldosterone unresponsiveness affects kidneys, colon, sweet and salivary glands and the lung and has been associated with mutations encoding the amiloride-sensitive epithelial sodium channel (ENaC), a mineralocorticoid receptor gene [1]. In the lung ENaC regulates the could be fatal in infancy, but has an excellent prognosis later on. The classicquantity form and is composition autosomal dominant of respiratory with renal tract involvement fluid. The conditiononly and defects in tubular absorption of sodium [2]. Case Report Our patient is a 5 month-old boy, the 4th child of unrelated normal, non-consanguineous Roma parents, born after an uneventful pregnancy with normal delivery and birth weight Bw=4.500gr.The 1st admission in the hospital was at the age of 2 months with bronchiolitis and failure to thrive (W=3.450<3rd PC). The last days, the mother meals. During clinical examination no apparent malformations were noticed.mentioned At frequentthe age of episodes 5 months, of hevomiting was readmitted and insufficient with the feeding same www.innovationinfo.org detected on the laboratory investigation and the rapid a constant drip from his nose with clear, thin liquid. During restoration protocol was applied. His primary disease hissymptoms. 2nd admission, Apart from the child’s respiratory general findings, condition mother deteriorated referred management consisted of high doses of sodium chloride (800 rapidly and he was transferred to the ICU unit with severe mg/kg) orally to stabilize salt loss. The diet was a formula electrolyte disturbances (Na=111iu/ml, K=7.5iu/ml, with low potassium. According to literature, he was treated pH=7.22, -HCO3=18.7mM), pneumonia of the right lung and for pulmonary dysfunction with adrenaline and Ibuprofen acute distress syndrome. He had a clinical presentation of 20mg/kg with excellent results. He gained weight and had septicemia and his overall condition was severe. He was normal development, but oxygen saturation remained at 92- intubated and delivered assisted ventilation for 9 days. 94%. He was under permanent oxygen supplementation and saturation rate remained 90-92% throughout the day. He remained in the hospital for 3 months in order not only to recover but also because of recurrent episodes of Discussion wheezing and oxygen supplementation requirements. It is The case described is a rare one and few reports interesting that our patient showed frequent unexplained are found in the literature. The patient presented with episodes of rapid deterioration of lung function with symptoms of recurrent vomiting and failure to thrive since decreased oxygen saturation and poor response to the age of 2 months. Furthermore, he developed symptoms bronchodilators andcorticosteroids. from the lungs also presenting with recurrent wheezing. Laboratory Investigation However, diagnosis was established at the age of 5 months due to severe electrolyte disturbances and acute distress Extensive laboratory investigation was negative for syndrome. bacterial infection, apart from positive RSV antibodies. The blood examination revealed an increased number of The diagnosis of primary hypo-aldosteronism type I leucocytes, but the acute reaction proteins were almost normal. In detail, the total leucocyte number was 18.800mm3 and the high titers of renin and aldosterone. In addition, (neutrophils=29%, lymphocytes=56%, monocytes=11%, suppressionwas suspected of thefrom adrenal the hormoneaxis was notedprofile, due hyperkaliemia to high doses of corticosteroids provided at the acute phase and the investigations for infectious diseases were negative, unresponsiveness of the patient to bronchodilators. During includingeosinophils=7%), antibodies CRP=1mg/L, for Meningitidococcus ΤΚΕ=59mm., Pneumonococcus Extended, Haemophilus influenza, Staphylococcus, Pseudomonas and patient had also recurrent episodes of lung involvement viruses including CMV, EBV, HSV, H1N1. unresponsivehis long hospitalization, to common itmedications. was interesting He responded to find that to high the salt and oxygen supplementation as well as per os Ibuprofen. (IgG=394 mg/dl, IgA=38 mg/dl, IgM=112 mg/dl, IgE<2U/L) The systemic form of primary hypoaldosteronism is a andThe lymphocyte immunological immune-phenotyping profile with wasimmunoglobulins normal. Heart rare disease [3,4] and is associated with a distinct respiratory investigation was also normal. Lung investigation showed syndrome [5]. The clinical presentation resembles that hyperventilation on X-ray and the CT scan revealed early infancy and is characterized by severe salt wasting displayingof asthma andwith cystic hyponatremia, fibrosis. The hyperkalemia, disease presents dehydration during laterinfiltrations despite type appropriate ground glasstreatment. in the Furthermore,right and left he upper had and metabolic acidosis despite high levels of plasma and medium lobe. Infiltration did not clear up one month aldosterone. Pulmonary involvement due to water and salt Renala normal function sweet wastest andnormal, DNA astest was excluding ultrasonography cystic fibrosis. and homeostasis disturbance leads to decreased sodium theGastroesophageal urine electrolytes reflux detected was ruled increased out by PH sodium measurements. excrete absorption and increased volume of an exudate [6]. This liquid that is more than twice the normal value, narrows the (Κ=130μM/L, Na=40 μM/L, Cl=23 μM/L). airway diameter and predisposes to wheezing. Active sodium Increased titers of renin>310pg/ml (normal 3.6-20.1), absorption is the dominant mechanism of ion transport in andHormone aldosterone profile >5547pmolL revealed secondary (normal adrenal 55.5-3051.4) insufficiency. were airway epithelium, but its role in pulmonary physiology and detected. Although ACTH was increased (ACTH=10.43pg/ airway host defense is unknown. The osmolality of the liquid ml), the cortisol pathway was normal (DHEA-S<15ug/dl, inhibits antimicrobial activities of the salt-sensitive defense mechanisms and it is implicated in mucus clearance. Defect of these mechanisms predisposes to severe lung infections in Δ4-androstendion<0.30ng/ml, 17OH progesterone=1.37ng/ early life from bacteria such as Pseudomonas aeroginosa and participationml, testosterone=62.0ng/dl, advocated for thecortisol=9.62μg/dl. systemic form. DiagnosisHowever, staphylococcus aureous [7]. These children have a persistent DNAof primary analysis hypo-aldosteronism of ECaN gene did not was reveal confirmed. any mutations. Pulmonary rhinorrhea and recurrent respiratory illness characterized by congestion, tachypnea, wheezing suggesting asthma as it Treatment The treatment during the acute phase in the ICU consisted phenotype and pathophysiology of lung disease in patients of antibiotics and high doses of dexamethasone due to inwas whom first airwaydescribed epithelial in 1958 sodium [8]. It transport is difficult may to predictbe affected the unresponsiveness to bronchodilators. However, those high [9]. Although the clinical presentation of our patient was doses were the cause of secondary adrenal insufficiency Sch