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    "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Dear Editor&#44; </span></p><p class="elsevierStylePara">Cystic fibrosis is a hereditary disease with a recessive autosomic pattern&#46; It is characterised by ecrine and exocrine gland abnormal function that causes chronic lung conditions&#44; abnormally concentrated sweat and pancreatic failure&#46; The usual symptoms are seen in infancy and are respiratory&#44; such as cough and recurrent respiratory and digestive complications such as m<span class="elsevierStyleItalic">econium</span><span class="elsevierStyleItalic"> </span><span class="elsevierStyleItalic">ileus&#46;<span class="elsevierStyleSup">1</span></span> A reduced percentage of cases reaches adulthood without being diagnosed due to partial mutations&#46;<span class="elsevierStyleSup">2</span> It is rarely associated with volume decrease and metabolic alkalosis and it is seen during the summer season due to lack of fluid loss replenishment&#46;</p><p class="elsevierStylePara">We present the case of an adult man who entered the nephrology department with a diagnosis of volume decrease&#44; alkalosis&#44; hypopotassaemia and acute renal failure&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Case report</span></p><p class="elsevierStylePara">The case is a 29 year old man who had been referred 6 years before to nephrology outpatient services by the emergency room because he was suffering from intense diaphoresis&#44; muscular weakness and arthralgia&#46; In the emergency room the following laboratory values had been found&#58; Na 128&#44; K 2&#46;8&#44; urea 71 and glucose 139&#46;</p><p class="elsevierStylePara">Among his personal medical history were multiple fractures due to a traffic accident&#44; appendectomy and frequent respiratory infections&#46; On physical examination he presented a blood pressure of 110&#47;74 mmHg&#44; a heart rate of 100 bpm and skin and mucose membrane dehydration&#46; Nothing else of note was seen in the course of the physical examination&#46; The most relevant values seen in the laboratory were&#58; &#40;emergency room analysis&#41; Hb 17&#46;8&#44; Na 128&#44; K 2&#46;9&#44; urea 71&#44; pH 7&#46;56&#44; HCO<span class="elsevierStyleInf">3 </span>25&#44; PCO<span class="elsevierStyleInf">2 </span>28&#46;9&#44; base excess 3&#46;30&#59; &#40;consultation analysis&#58; 2 days later&#44; when the emergency room had already rehydrated the patient&#41; Hb 13&#46;6&#44; VSG 6&#44; Cr 0&#46;87&#44; lipase 1&#44;287&#44; osmolarity in serum 2&#46;94&#44; Ca 8&#46;87&#44; phosphatase 2&#46;6&#44; pH 7&#46;35&#44; PCO<span class="elsevierStyleInf">2 </span>57&#44; HCO<span class="elsevierStyleInf">3 </span>31&#46;2&#44; Na&#40;O&#41; 18 mEq&#47;24 h&#44; Cl &#40;O&#41; 8 mEq&#47;24 h&#44; proteinuria 0&#46;21 g&#47;24 hours&#46; The condition was interpreted as heat stroke&#46;</p><p class="elsevierStylePara">The following year&#44; coinciding with the summer season&#44; the patient once more had intense diaphoresis&#44; renal failure&#44; hypopotassaemia and hyponatraemia that were resolved with hydration&#46; The patient was advised to ingest fluids and electrolytes during the summer&#46;</p><p class="elsevierStylePara">The following year the patient suffered from the same condition and in view of the history of profuse sweating as a consequence of the hydroelectrolyte disorder&#44; a sweat test was requested and they found positive the following&#58; chlorine &#40;sweat&#41; 83 &#40;normal 28&#41;&#46; A genetic test for cystic fibrosis using the INNO-LIPA CFTR 12 and CTFR 17 technique was normal&#46;</p><p class="elsevierStylePara">The next year the patient had a recurrence of the same clinical condition&#44; and suspecting cystic fibrosis&#44; a spermogram was performed and showed complete azoospermia&#46; On abdominal CT a pancreas with thickened body and head was seen&#46; There were no other findings&#46; The genetic study using the OLA-PCR technique was repeated and the results were normal&#44; although CFTR &#40;<span class="elsevierStyleItalic">IVS8&#41; 5T polymorphism was found</span><span class="elsevierStyleItalic">&#46;</span> Since further abnormalities were suspected the molecular study of the CFTR gene was continued&#46;<span class="elsevierStyleItalic"> </span>For this reason&#44; a genetic-molecular study was requested and the following genotype obtained&#58; 1811&#43;1&#44;6kba&#62;G&#47;A1006E&#44; 5T&#44;V562l&#46; The patient was sent to the cystic fibrosis unit&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Discussion</span></p><p class="elsevierStylePara">The relation between salty skin and early death has been known for a long time&#44; cystic fibrosis was described in 1930 and was called cystic fibrosis of the pancreas because this organ was the most affected&#44; even though later it was known that the condition affected all exocrine glands&#46;<span class="elsevierStyleSup">3</span> The disease is due to the mutation of the cystic fibrosis gene that codes for a membrane protein that can be a ion canal&#44; this causes an alteration of chloride secretion and modifies all exocrine secretions&#46;</p><p class="elsevierStylePara">The case is a young patient who comes to consultation due to dehydration in summer&#46; Once the patient recovered&#44; no further studies were performed&#44; but when the patient had a recurrence of symptoms during the same time of year further attention was given to the sweating as it was considered related to the reason for the condition&#46; The sweat test is the most important diagnostic method for the detection of cystic fibrosis&#46;<span class="elsevierStyleSup">4</span> And in this case it was positive&#46; Subsequently a genetic test was requested&#44; this was negative and once the patient recovered&#44; there was no further insistence on achieving a diagnosis&#46; When the clinical condition recurred&#44; a spermogram was requested&#44; since more than 97&#37; of patients with cystic fibrosis are sterile due to incomplete development of the wolffian ducts&#46; Absolute azoospermia was found&#46; A first genetic analysis was negative&#44; the second &#40;covers 76&#37; of the Spanish population&#41; analysis only found a polymorphism&#44; and the study was continued&#46; The last test &#40;covers 96&#37; of the Spanish population&#41; showed two mutations of the CFTR gene<span class="elsevierStyleItalic"> </span>&#40;1811&#43;1&#44;6kba&#62;G&#47;A1006E&#44; 5T&#44;V562l&#41;&#46;</p><p class="elsevierStylePara">The diagnosis of cystic fibrosis was carried out by means of a positive sweat test and tests that showed two gene mutations&#46;<span class="elsevierStyleSup">5-7</span></p><p class="elsevierStylePara">Hypovolaemia with recurrent metabolic alkalosis during the summer must lead us to suspect cystic fibrosis as a possible cause&#46;</p>"
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Hyponatraemia, Hypopotassaemia and Pre-renal Acute Renal Failure as a Presentation of Cystic Fibrosis
Hiponatremia, hipopotasemia e insuficiencia renal aguda prerrenal como presentación de fibrosis quística
M.A.. Pavonea, A.. Solís Padronesa, D.G.. Muratorea, M.. Saiza, C.. Puiga
a Servicio de Nefrología, Hospital Can Misses, Ibiza, Islas Baleares,
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    "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">Dear Editor&#44; </span></p><p class="elsevierStylePara">Cystic fibrosis is a hereditary disease with a recessive autosomic pattern&#46; It is characterised by ecrine and exocrine gland abnormal function that causes chronic lung conditions&#44; abnormally concentrated sweat and pancreatic failure&#46; The usual symptoms are seen in infancy and are respiratory&#44; such as cough and recurrent respiratory and digestive complications such as m<span class="elsevierStyleItalic">econium</span><span class="elsevierStyleItalic"> </span><span class="elsevierStyleItalic">ileus&#46;<span class="elsevierStyleSup">1</span></span> A reduced percentage of cases reaches adulthood without being diagnosed due to partial mutations&#46;<span class="elsevierStyleSup">2</span> It is rarely associated with volume decrease and metabolic alkalosis and it is seen during the summer season due to lack of fluid loss replenishment&#46;</p><p class="elsevierStylePara">We present the case of an adult man who entered the nephrology department with a diagnosis of volume decrease&#44; alkalosis&#44; hypopotassaemia and acute renal failure&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Case report</span></p><p class="elsevierStylePara">The case is a 29 year old man who had been referred 6 years before to nephrology outpatient services by the emergency room because he was suffering from intense diaphoresis&#44; muscular weakness and arthralgia&#46; In the emergency room the following laboratory values had been found&#58; Na 128&#44; K 2&#46;8&#44; urea 71 and glucose 139&#46;</p><p class="elsevierStylePara">Among his personal medical history were multiple fractures due to a traffic accident&#44; appendectomy and frequent respiratory infections&#46; On physical examination he presented a blood pressure of 110&#47;74 mmHg&#44; a heart rate of 100 bpm and skin and mucose membrane dehydration&#46; Nothing else of note was seen in the course of the physical examination&#46; The most relevant values seen in the laboratory were&#58; &#40;emergency room analysis&#41; Hb 17&#46;8&#44; Na 128&#44; K 2&#46;9&#44; urea 71&#44; pH 7&#46;56&#44; HCO<span class="elsevierStyleInf">3 </span>25&#44; PCO<span class="elsevierStyleInf">2 </span>28&#46;9&#44; base excess 3&#46;30&#59; &#40;consultation analysis&#58; 2 days later&#44; when the emergency room had already rehydrated the patient&#41; Hb 13&#46;6&#44; VSG 6&#44; Cr 0&#46;87&#44; lipase 1&#44;287&#44; osmolarity in serum 2&#46;94&#44; Ca 8&#46;87&#44; phosphatase 2&#46;6&#44; pH 7&#46;35&#44; PCO<span class="elsevierStyleInf">2 </span>57&#44; HCO<span class="elsevierStyleInf">3 </span>31&#46;2&#44; Na&#40;O&#41; 18 mEq&#47;24 h&#44; Cl &#40;O&#41; 8 mEq&#47;24 h&#44; proteinuria 0&#46;21 g&#47;24 hours&#46; The condition was interpreted as heat stroke&#46;</p><p class="elsevierStylePara">The following year&#44; coinciding with the summer season&#44; the patient once more had intense diaphoresis&#44; renal failure&#44; hypopotassaemia and hyponatraemia that were resolved with hydration&#46; The patient was advised to ingest fluids and electrolytes during the summer&#46;</p><p class="elsevierStylePara">The following year the patient suffered from the same condition and in view of the history of profuse sweating as a consequence of the hydroelectrolyte disorder&#44; a sweat test was requested and they found positive the following&#58; chlorine &#40;sweat&#41; 83 &#40;normal 28&#41;&#46; A genetic test for cystic fibrosis using the INNO-LIPA CFTR 12 and CTFR 17 technique was normal&#46;</p><p class="elsevierStylePara">The next year the patient had a recurrence of the same clinical condition&#44; and suspecting cystic fibrosis&#44; a spermogram was performed and showed complete azoospermia&#46; On abdominal CT a pancreas with thickened body and head was seen&#46; There were no other findings&#46; The genetic study using the OLA-PCR technique was repeated and the results were normal&#44; although CFTR &#40;<span class="elsevierStyleItalic">IVS8&#41; 5T polymorphism was found</span><span class="elsevierStyleItalic">&#46;</span> Since further abnormalities were suspected the molecular study of the CFTR gene was continued&#46;<span class="elsevierStyleItalic"> </span>For this reason&#44; a genetic-molecular study was requested and the following genotype obtained&#58; 1811&#43;1&#44;6kba&#62;G&#47;A1006E&#44; 5T&#44;V562l&#46; The patient was sent to the cystic fibrosis unit&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Discussion</span></p><p class="elsevierStylePara">The relation between salty skin and early death has been known for a long time&#44; cystic fibrosis was described in 1930 and was called cystic fibrosis of the pancreas because this organ was the most affected&#44; even though later it was known that the condition affected all exocrine glands&#46;<span class="elsevierStyleSup">3</span> The disease is due to the mutation of the cystic fibrosis gene that codes for a membrane protein that can be a ion canal&#44; this causes an alteration of chloride secretion and modifies all exocrine secretions&#46;</p><p class="elsevierStylePara">The case is a young patient who comes to consultation due to dehydration in summer&#46; Once the patient recovered&#44; no further studies were performed&#44; but when the patient had a recurrence of symptoms during the same time of year further attention was given to the sweating as it was considered related to the reason for the condition&#46; The sweat test is the most important diagnostic method for the detection of cystic fibrosis&#46;<span class="elsevierStyleSup">4</span> And in this case it was positive&#46; Subsequently a genetic test was requested&#44; this was negative and once the patient recovered&#44; there was no further insistence on achieving a diagnosis&#46; When the clinical condition recurred&#44; a spermogram was requested&#44; since more than 97&#37; of patients with cystic fibrosis are sterile due to incomplete development of the wolffian ducts&#46; Absolute azoospermia was found&#46; A first genetic analysis was negative&#44; the second &#40;covers 76&#37; of the Spanish population&#41; analysis only found a polymorphism&#44; and the study was continued&#46; The last test &#40;covers 96&#37; of the Spanish population&#41; showed two mutations of the CFTR gene<span class="elsevierStyleItalic"> </span>&#40;1811&#43;1&#44;6kba&#62;G&#47;A1006E&#44; 5T&#44;V562l&#41;&#46;</p><p class="elsevierStylePara">The diagnosis of cystic fibrosis was carried out by means of a positive sweat test and tests that showed two gene mutations&#46;<span class="elsevierStyleSup">5-7</span></p><p class="elsevierStylePara">Hypovolaemia with recurrent metabolic alkalosis during the summer must lead us to suspect cystic fibrosis as a possible cause&#46;</p>"
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