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who came to the Emergency Department due to colicky hypogastric pain lasting 72 hours&#44; which did not subside when treated with non-steroidal anti-inflammatory drugs &#40;NSAIDs&#41; every 8 hours&#46; The patient had previously experienced similar episodes&#46; On admission&#44; he had blood pressure of 120&#47;80mmHg and I&#47;IV early diastolic murmur&#44; with the rest of the examination being normal&#46; The laboratory test displayed urea 71mg&#47;dl&#44; creatinine 3&#46;69mg&#47;dl&#44; Mg 2&#46;1mg&#47;dl&#44; Ca 5&#46;2mg&#47;dl&#44; P 7&#46;6mg&#47;dl&#44; total protein 6&#46;27g&#47;dl&#44; albumin 3&#46;6g&#47;dl&#44; intact PTH 216pg&#47;ml&#44; 25-hydroxyvitamin D 7&#46;3ng&#47;ml&#44; normal thyroid hormones&#44; venous blood gases&#58; pH 7&#46;37&#44; pO<span class="elsevierStyleInf">2</span> 50mmHg&#44; pCO<span class="elsevierStyleInf">2</span> 37mmHg&#44; bicarbonate 21mmol&#47;l&#44; renal function in urine&#58; EF Na 0&#46;71&#37;&#44; glucose 9mg&#47;dl&#44; urea 946mg&#47;dl&#44; Cr 86&#46;37mg&#47;dl&#44; Na 27mmol&#47;l&#44; K 21&#46;2mmol&#47;l&#44; Ca 7&#46;8mg&#47;day and P 850&#46;2mg&#47;day&#59; systematic and normal urinary sediment&#44; with negative haematuria and proteinuria&#59; blood count&#58; haemoglobin 15&#46;1g&#47;dl&#44; leukocytes 11&#44;000&#47;ul&#44; platelets 167&#44;000&#47;ul&#46; Laboratory tests were reviewed and they revealed previous hypocalcaemia and hyperphosphataemia&#44; with normal renal function&#44; which had not been detected for at least three years &#40;Figure 1&#41;&#46; The biochemical study of his parents&#8217; calcaemia&#44; phosphataemia and PTH were normal&#46; The patient&#8217;s clinical progression was good after we withdrew the NSAIDs&#44; to which the aetiology of acute renal failure was attributed&#44; oral and intravenous hydration&#44; oral calcium and vitamin D&#44; with kidney function being normal on discharge&#46; Abdominal symptoms subsided after hypocalcaemia was corrected&#44; without recurrences of similar episodes&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">DISCUSSION</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The term PHP encompasses a heterogeneous group of uncommon metabolic disorders whose common denominator is variable resistance to PTH action&#46;<span class="elsevierStyleSup">1-3</span> Two types of PHP can be distinguished in accordance with the response of urinary cAMP after the intravenous injection of PTH&#58; type I PHP&#44; in which cAMP does not increase following the administration of PTH&#44; and type II PHP&#44; in which cAMP increases&#46;<span class="elsevierStyleSup">4</span> Type I PHP is divided into three subtypes&#58; Ia&#44; Ib and Ic&#46; Patients with subtypes Ia and Ic have an autosomal dominant inheritance pattern and generally present the Albright osteodystrophy phenotype<span class="elsevierStyleSup">4 </span>&#40;short height&#44; obesity&#44; learning difficulties&#44; subcutaneous calcifications and typical skeletal defects&#41; and multi-hormone resistance&#46; Subtype Ib is characterised by isolated resistance to PTH&#44; it may have a normal phenotype or the Albright osteodystrophy phenotype and the defect is usually sporadic&#44; but it is occasionally has autosomal dominant inheritance&#46; In type II PHP&#44; no molecular defect has been identified&#44; but it lacks the Albright phenotype and multi-hormone resistance and it is not usually familial&#46;<span class="elsevierStyleSup">5</span></p><p class="elsevierStylePara">We performed a differential diagnosis between chronic kidney disease&#44; vitamin D deficiency and PHP&#46; The reversibility of renal failure and persistent hypocalcaemia&#44; hyperphosphataemia and elevated PTH ruled out chronic kidney disease as aetiology&#44; and the absence of hypophosphataemia ruled out vitamin D deficiency&#46; We concluded that this patient had type Ib or II PHP&#44; given the absence of the AHO phenotype and multi-hormone resistance&#46; However&#44; we cannot determine clearly whether our patient corresponded to type Ib or type II PHP&#46;</p><p class="elsevierStylePara">In summary&#44; we reported the case of a patient with renal failure&#44; hypocalcaemia&#44; hyperphosphataemia and elevated PTH of long progression&#46; The nephrologists&#8217; knowledge of the calcium-phosphorus metabolism pathophysiology allowed us to make an early diagnosis and carry out early treatment of an uncommon condition for nephrologists and&#44; as its late diagnosis reveals&#44; one that is also uncommon for the other medical specialties&#46; It is necessary to emphasise the importance of early PHP treatment in order to normalise serum calcium and prevent the bone loss that can occur in the long term if a chronically high level of PTH is maintained&#46; The objective of treatment was to normalise serum calcium levels and curb PTH hypersecretion&#44; and as such&#44; vitamin D derivatives and calcium supplements were used&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;12197&#95;16025&#95;54643&#95;en&#95;f112197&#46;jpg" class="elsevierStyleCrossRefs"><img src="12197_16025_54643_en_f112197.jpg" alt="Progression of calcium and phosphorus &#40;mg&#47;dl&#41; prior to diagnosis and from the start of treatment&#46;"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Progression of calcium and phosphorus &#40;mg&#47;dl&#41; prior to diagnosis and from the start of treatment&#46;</p>"
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Hypocalcaemia, hyperphosphataemia and elevated parathyroid hormone, a difficult differential diagnosis?
Hipocalcemia, hiperfosforemia y elevación de la paratohormona, ¿un arduo diagnóstico diferencial?
Pilar Fraile-Gómeza, Marc H. Blanca, Óscar Segurado-Tostónb, Pedro García-Cosmesb, José M. Tabernero-Romob
a Servicio de Nefrología, Hospital Universitario de Salamanca,
b Servicio de Nefrología, Hospital Universitario de Salamanca
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    "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">To the Editor&#58;</span></p><p class="elsevierStylePara">Pseudohypoparathyroidism<span class="elsevierStyleSup">1</span> &#40;PHP&#41; is a heterogeneous condition characterised by hypocalcaemia and secondary hyperparathyroidism&#44; whose aetiology lies in the resistance to the biological action of circulating parathyroid hormone &#40;PTH&#41;&#46; It is generally diagnosed during childhood&#46; When the diagnosis is made in adulthood&#44; it may be difficult to distinguish it from secondary hyperparathyroidism&#44;<span class="elsevierStyleSup">2</span> especially in patients with renal failure&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">CASE STUDY</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">We report the case of an 18-year-old male with a history of functionally bicuspid aortic valve&#44; who came to the Emergency Department due to colicky hypogastric pain lasting 72 hours&#44; which did not subside when treated with non-steroidal anti-inflammatory drugs &#40;NSAIDs&#41; every 8 hours&#46; The patient had previously experienced similar episodes&#46; On admission&#44; he had blood pressure of 120&#47;80mmHg and I&#47;IV early diastolic murmur&#44; with the rest of the examination being normal&#46; The laboratory test displayed urea 71mg&#47;dl&#44; creatinine 3&#46;69mg&#47;dl&#44; Mg 2&#46;1mg&#47;dl&#44; Ca 5&#46;2mg&#47;dl&#44; P 7&#46;6mg&#47;dl&#44; total protein 6&#46;27g&#47;dl&#44; albumin 3&#46;6g&#47;dl&#44; intact PTH 216pg&#47;ml&#44; 25-hydroxyvitamin D 7&#46;3ng&#47;ml&#44; normal thyroid hormones&#44; venous blood gases&#58; pH 7&#46;37&#44; pO<span class="elsevierStyleInf">2</span> 50mmHg&#44; pCO<span class="elsevierStyleInf">2</span> 37mmHg&#44; bicarbonate 21mmol&#47;l&#44; renal function in urine&#58; EF Na 0&#46;71&#37;&#44; glucose 9mg&#47;dl&#44; urea 946mg&#47;dl&#44; Cr 86&#46;37mg&#47;dl&#44; Na 27mmol&#47;l&#44; K 21&#46;2mmol&#47;l&#44; Ca 7&#46;8mg&#47;day and P 850&#46;2mg&#47;day&#59; systematic and normal urinary sediment&#44; with negative haematuria and proteinuria&#59; blood count&#58; haemoglobin 15&#46;1g&#47;dl&#44; leukocytes 11&#44;000&#47;ul&#44; platelets 167&#44;000&#47;ul&#46; Laboratory tests were reviewed and they revealed previous hypocalcaemia and hyperphosphataemia&#44; with normal renal function&#44; which had not been detected for at least three years &#40;Figure 1&#41;&#46; The biochemical study of his parents&#8217; calcaemia&#44; phosphataemia and PTH were normal&#46; The patient&#8217;s clinical progression was good after we withdrew the NSAIDs&#44; to which the aetiology of acute renal failure was attributed&#44; oral and intravenous hydration&#44; oral calcium and vitamin D&#44; with kidney function being normal on discharge&#46; Abdominal symptoms subsided after hypocalcaemia was corrected&#44; without recurrences of similar episodes&#46;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">&#160;</span></p><p class="elsevierStylePara"><span class="elsevierStyleBold">DISCUSSION</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The term PHP encompasses a heterogeneous group of uncommon metabolic disorders whose common denominator is variable resistance to PTH action&#46;<span class="elsevierStyleSup">1-3</span> Two types of PHP can be distinguished in accordance with the response of urinary cAMP after the intravenous injection of PTH&#58; type I PHP&#44; in which cAMP does not increase following the administration of PTH&#44; and type II PHP&#44; in which cAMP increases&#46;<span class="elsevierStyleSup">4</span> Type I PHP is divided into three subtypes&#58; Ia&#44; Ib and Ic&#46; Patients with subtypes Ia and Ic have an autosomal dominant inheritance pattern and generally present the Albright osteodystrophy phenotype<span class="elsevierStyleSup">4 </span>&#40;short height&#44; obesity&#44; learning difficulties&#44; subcutaneous calcifications and typical skeletal defects&#41; and multi-hormone resistance&#46; Subtype Ib is characterised by isolated resistance to PTH&#44; it may have a normal phenotype or the Albright osteodystrophy phenotype and the defect is usually sporadic&#44; but it is occasionally has autosomal dominant inheritance&#46; In type II PHP&#44; no molecular defect has been identified&#44; but it lacks the Albright phenotype and multi-hormone resistance and it is not usually familial&#46;<span class="elsevierStyleSup">5</span></p><p class="elsevierStylePara">We performed a differential diagnosis between chronic kidney disease&#44; vitamin D deficiency and PHP&#46; The reversibility of renal failure and persistent hypocalcaemia&#44; hyperphosphataemia and elevated PTH ruled out chronic kidney disease as aetiology&#44; and the absence of hypophosphataemia ruled out vitamin D deficiency&#46; We concluded that this patient had type Ib or II PHP&#44; given the absence of the AHO phenotype and multi-hormone resistance&#46; However&#44; we cannot determine clearly whether our patient corresponded to type Ib or type II PHP&#46;</p><p class="elsevierStylePara">In summary&#44; we reported the case of a patient with renal failure&#44; hypocalcaemia&#44; hyperphosphataemia and elevated PTH of long progression&#46; The nephrologists&#8217; knowledge of the calcium-phosphorus metabolism pathophysiology allowed us to make an early diagnosis and carry out early treatment of an uncommon condition for nephrologists and&#44; as its late diagnosis reveals&#44; one that is also uncommon for the other medical specialties&#46; It is necessary to emphasise the importance of early PHP treatment in order to normalise serum calcium and prevent the bone loss that can occur in the long term if a chronically high level of PTH is maintained&#46; The objective of treatment was to normalise serum calcium levels and curb PTH hypersecretion&#44; and as such&#44; vitamin D derivatives and calcium supplements were used&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;12197&#95;16025&#95;54643&#95;en&#95;f112197&#46;jpg" class="elsevierStyleCrossRefs"><img src="12197_16025_54643_en_f112197.jpg" alt="Progression of calcium and phosphorus &#40;mg&#47;dl&#41; prior to diagnosis and from the start of treatment&#46;"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Progression of calcium and phosphorus &#40;mg&#47;dl&#41; prior to diagnosis and from the start of treatment&#46;</p>"
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