{"id":10615,"date":"2020-07-07T12:54:38","date_gmt":"2020-07-07T12:54:38","guid":{"rendered":"https:\/\/jurmed.ro\/medici\/?p=10615"},"modified":"2020-07-07T12:54:38","modified_gmt":"2020-07-07T12:54:38","slug":"diabetul-insipid-congenital-la-prematur","status":"publish","type":"post","link":"https:\/\/jurmed.ro\/medici\/diabetul-insipid-congenital-la-prematur\/","title":{"rendered":"Diabetul insipid congenital la\u00a0prematur"},"content":{"rendered":"<p style=\"text-align: justify\"><em><strong>Autor:<\/strong><\/em><\/p>\n<p style=\"text-align: justify\"><em><strong>Dr. Leonard N\u0103stase <\/strong>\u2022 neonatologie<\/em><\/p>\n<p style=\"text-align: justify\"><em><strong>Biol. medical pr. Maria Cernahoschi, <\/strong><\/em><\/p>\n<p style=\"text-align: justify\"><em><strong>Dr. chimist medical Pr. Mirela Sm\u0103r\u0103ndoiu<\/strong><\/em><\/p>\n<p style=\"text-align: justify\"><em>INSMC- SPITALUL CLINIC OG \u201cPOLIZU\u201d<\/em><\/p>\n<p style=\"text-align: justify\"><strong><u>Rezumat<\/u><\/strong><\/p>\n<p style=\"text-align: justify\">Diabetul insipid este o boal\u0103 rar \u00eent\u00e2lnit\u0103 \u00een perioada neonatal\u0103 \u0219i cu importan\u021b\u0103 major\u0103 datorit\u0103 riscurilor crescute de retard mental \u0219i renale \u00een ciuda tratamentului. Totu\u0219i unele studii arat\u0103 c\u0103 diagnosticul \u0219i tratamentul precoce reduce inciden\u021ba afect\u0103rii neurologice. Depistarea acestei patologii \u00een perioada neonatal\u0103 \u0219i mai ales la un nou-n\u0103scut prematur, este dificil\u0103 datorit\u0103 prezen\u021bei varia\u021biilor electrolitice secundare imaturit\u0103\u021bii func\u021biei renale.<\/p>\n<p style=\"text-align: justify\">V\u0103 prezent\u0103m cazul unui prematur VLBW cu hipernatremie persistent\u0103 care \u00een primele s\u0103pt\u0103m\u00e2ni de via\u021b\u0103 \u00een evolu\u021bie a dezvoltat poliurie, polifagie \u0219i hiperosmolaritate seric\u0103. Pe baza testelor de laborator urinare \u0219i serice, testul la vasopresin\u0103, existen\u021ba \u00een familie doar a altor cazuri de sex masculin cu sindrom poliuropolidipsic a fost diagnosticat cu diabet insipid nefrogen (DIN) congenital probabil cu transmitere congenital\u0103 X linkat\u0103. Instituirea precoce a tratamentului a permis o bun\u0103 dezvoltare ulterioar\u0103. Aceast\u0103 categorie de pacien\u021bi necesit\u0103 \u00eengrijire multidisciplinar\u0103 \u0219i monitorizare frecvent\u0103 pentru prevenirea complica\u021biilor pe termen lung. Particularitatea cazului a fost prezen\u021ba unui biomarker al sepsisului, presepsina, la valori persistent crescute, \u00een absen\u021ba acestuia, p\u00e2n\u0103 la ini\u021bierea tratamentului DIN. Asocierea a favorizat investigarea pentru o patologie renal\u0103 cauzal\u0103 hipernatremic\u0103, respectiv diabetului insipid.<\/p>\n<p style=\"text-align: justify\"><strong><u>Introducere<\/u><\/strong><\/p>\n<p style=\"text-align: justify\">Diabetul insipid este o boal\u0103 rar \u00eent\u00e2lnit\u0103 \u00een perioada neonatal\u0103 dar prezint\u0103 importan\u021b\u0103 clinic\u0103 datorit\u0103 riscurilor crescute de retard mental \u0219i renale \u00een ciuda tratamentului. Depistarea acestei patologii \u00een perioada neonatal\u0103 \u0219i mai ales la nou-n\u0103scut prematur este dificil\u0103 datorit\u0103 prezen\u021bei varia\u021biilor electrolitice secundare imaturit\u0103\u021bii func\u021biei renale. Hipernatremia prematurului \u00een perioada neonatal\u0103 poate fi secundar\u0103 deshidrat\u0103rii \u0219i necesit\u0103 tratament prompt \u0219i gradat pentru evitarea afect\u0103rii cerebrale secundare at\u00e2t hipernatremiei c\u00e2t \u0219i corec\u021biei acesteia.<\/p>\n<p style=\"text-align: justify\"><strong><u>Caz clinic.<\/u><\/strong><\/p>\n<p style=\"text-align: justify\">Autorii prezint\u0103 cazul unui nou-n\u0103scut prematur ca v\u00e2rsta gesta\u021bional\u0103 de 30 de s\u0103pt\u0103m\u00e2ni, BW 1460g, sex masculin, care \u00eel \u00eencadreaz\u0103 la categorie de mic pentru VG, extras prin opera\u021bie cezarian\u0103 din prezenta\u021bie cranian\u0103, \u0219i hipoxie medie, SA 6 la 1 minut \u0219i 7 la 5 minute de via\u021b\u0103.<\/p>\n<p style=\"text-align: justify\"><strong>Anamneza sarcinii. <\/strong>Mama \u00een v\u00e2rsta de 28 de ani, primigest\u0103 primipar\u0103, a prezentat hipertensiune sistemic\u0103 preexistenta \u0219i agravat\u0103 de sarcin\u0103 \u0219i tratat\u0103. Este fum\u0103toare \u0219i a prezentat candidoz\u0103 vaginal\u0103 \u00een trimestrul I al gravidit\u0103\u021bii, tratat\u0103 local.<\/p>\n<p style=\"text-align: justify\"><strong>Antecedente patologice familiale.<\/strong> Bunicul matern a prezentat sindrom poliuropolidipsic din copil\u0103rie, neinvestigat \u0219i netratat, \u00een prezent cu u\u0219or retard mental labilitate psihic\u0103.<\/p>\n<p style=\"text-align: justify\"><strong>Evolu\u021bia \u00een maternitate. <\/strong>Datele antropometrice (1460 grame (P=25-50%), T=45 cm(P=&gt;90%), PC=27 cm cm(P=25%), IP=1,6 (P&lt;10%)) \u00eencadreaz\u0103 nou-n\u0103scutul \u00een categoria prematurului cu greutate corespunz\u0103toare v\u00e2rstei dezvoltat dizarmonic.<\/p>\n<p style=\"text-align: justify\"><strong>Istoric <\/strong>\u2013 la na\u0219tere nou-n\u0103scutul prezint\u0103 stare general\u0103 mediocr\u0103 (SA 6\/7), cianoz\u0103, apnee secundar\u0103, tonus flasc, motilitate absent\u0103. \u00cen sala de na\u0219teri a necesitat manevre invazive de reanimare -ventila\u021bie manual\u0103 cu PIP\/PEEP, FiO2 40%, admis \u00een TINN pentru continuarea tratamentului \u0219i monitoriz\u0103rii conform gradului de prematuritate. A fost plasat la punct de neutralitate termic\u0103, (Tc 37 C), oxigenoterapie cu FiO2 40%, a primit PEV de aport hidroelectrolitic \u0219i caloric, bolusuri pentru corec\u021bia dezechilibrelor metabolice, \u0219i s-a instituit antibioterapie profilactic\u0103. Din ziua a 2-a de via\u021b\u0103, pe baza aspectului abdominal clinic \u0219i radiologic \u0219i a factorilor de risc matern (fumat \u0219i HTA), s-au eviden\u021biat suferin\u021be intestinale fetale intrauterine, adesea asociate cu cele renale, necesit\u00e2nd tratament cu Dopamina \u00een doz\u0103 mezenteric\u0103 timp de 8 zile. Evolu\u021bia a fost lent favorabil\u0103 cu stabilitate cardiorespiratorie, \u0219i instalarea progresiv\u0103 a toleran\u021bei digestive. Sc\u0103derea ponderal\u0103 maxim\u0103 a fost de 8% \u0219i rec\u0103p\u0103tarea greut\u0103\u021bii de la na\u0219tere la 10 zile de via\u021b\u0103.<\/p>\n<p style=\"text-align: justify\">Ini\u021bial natremia a fost 141 mEq\/l, ulterior, din a doua zi de via\u021b\u0103, \u00een primele 3 s\u0103pt\u0103m\u00e2ni de via\u021b\u0103, analizele de laborator relev\u0103 hipernatremia persistent\u0103, de 148-161,6 mEq\/l, asociat\u0103 cu hipercloremie, osmolaritate plasmatic\u0103 crescut\u0103 (303,5-328,8 mmol\/Kg), hipercalcemie 11,9-14 mg\/dl \u0219i hiperuremie 81-85 mg\/dl. La 10 zile de via\u021b\u0103 pacientul a prezentat primul croset febril 38,5 C cu status clinic aparent normal. Analizele de laborator au eviden\u021biat un proces inflamator, posibil infec\u021bios, pa baza proteinei C reactive (CRP) de 3,9 mg\/dl, procalcitoninei (PCT) de 4,9 ng\/ml \u0219i presepsinei PSP 975 pg\/ml, pentru care s-a modificat antibioterapia. La dou\u0103 s\u0103pt\u0103m\u00e2ni de via\u021b\u0103 s-a constatat afectarea renal\u0103, insuficien\u021ba renal\u0103 acut\u0103 pe baza valorilor serice ale creatininei 1,32 mg\/dl (normal ptr VG 0,57-1,14) \u0219i RFG de 11,3 (valoare calculat\u0103 0,34xL(cm)\/CrPlasmatic\u0103; normal ptr VG 13-58) \u0219i cre\u0219terea PSP p\u00e2n\u0103 la valori maxime de 1647 ng\/ml.<\/p>\n<p style=\"text-align: justify\">\u00cen evolu\u021bie cre\u0219terea ponderal\u0103 a fost corespunz\u0103toare v\u00e2rstei postnatale. Sindromul inflamator sistemic s-a negativat iar RFG s-a normalizat la valori progresiv cresc\u0103toare de 15,3-20,6. Deoarece au persistat valorile crescute ale presepsinei (peste 900 pg\/dl), \u0219i hipernatremiei (153,5-173,5 mEq\/L) s-au efectuat investiga\u021bii suplimentare care au eviden\u021biat :<\/p>\n<ul>\n<li style=\"text-align: justify\">lipsa sindromului inflamator biologic (hemograma, CRP \u0219i PCT \u00een limite normale)<\/li>\n<li style=\"text-align: justify\">hiperosmolaritate plasmatic\u0103 de 333-356,4 mmol\/kg<\/li>\n<li style=\"text-align: justify\">hipercalcemie (11,4-14 mg\/dl)<\/li>\n<li style=\"text-align: justify\">hiponatremie (14-19 mmol\/L) \u0219i FENa sc\u0103zut\u0103 (0,96), osmolaritate urinar\u0103 sc\u0103zut\u0103 sub nivelul plasmatic 107,8 mmol\/kgrinichiul st\u00e2ng ptozat (41,2 mm) \u0219i structura pielocaliceal\u0103 slab diferen\u021biat\u0103 (ecografie abdominal\u0103)<\/li>\n<li style=\"text-align: justify\">structuri cerebrale cu aspect normal (ecografie transfontanelar\u0103)<\/li>\n<li style=\"text-align: justify\">retinopatie de prematuritate (examen oftalmologic)<\/li>\n<li style=\"text-align: justify\">\u0219aua turceasc\u0103 de aspect \u0219i dimensiuni normale (radiografie de craniu)<\/li>\n<\/ul>\n<p style=\"text-align: justify\">La 42 de zile de via\u021b\u0103 pacientul a repetat febra 39 C, iar examenul microbiologic a identificat infec\u021bie urinar\u0103 cu E Coli pentru care s-a instituit tratament antibiotic conform antibiogramei (Tienam 14 zile), cu sterilizarea culturilor ulterioare. Pacientul a prezentat sindrom febril prelungit (18 zile), perioade de iritabilitate \u0219i apetit alimentar vorace slab ameliorate dup\u0103 cre\u0219terea progresiv\u0103 a aportului ini\u021bial, \u0219i diureza crescut\u0103 5,5-6,5 ml\/kg\/h. Astfel c\u0103 la v\u00e2rsta de 6 s\u0103pt\u0103m\u00e2ni postnatal, respectiv 36 s\u0103pt postconcep\u021bional a prezentat o diurez\u0103 de 2,07 L\/m2\/24 ore (normal -sub 2 L\/m2\/24 ore) concomitent cu persisten\u021ba hipernatremiei (peste 155 mEq\/l) \u0219i hiperosmolarit\u0103\u021bii serice.<\/p>\n<p style=\"text-align: justify\">Pe baza sindromului poliuropolidipsic, cu debut neonatal, hipernatremiei concomitente cu osmolaritate seric\u0103 crescut\u0103 (300 mmol\/kg) \u0219i osmolaritate urinar\u0103 sub cea seric\u0103 (107,8 mmol\/kg) \u0219i antecedentele familiale se suspicioneaz\u0103 diabetul insipid posibil nefrogen congenital.<\/p>\n<p style=\"text-align: justify\">Diagnostic pozitiv: diabet insipid \u2013 bazat pe semne \u0219i simptome clinice \u0219i paraclinice.\u00a0 Evolu\u021bie \u0219i tratament. Datorit\u0103 probabilit\u0103\u021bii crescute de DI nefrogen pe baza evolu\u021biei clinice \u0219i a probelor de laborator s-a instituit tratament cu diuretice tiazidice (Nefrix \u2013 Hidroclortiazida \u00een doz\u0103 de 3 mg\/kgc\/zi divizat \u00een dou\u0103 prize pe zi). Evolu\u021bia a fost favorabil\u0103 cu sc\u0103derea progresiv\u0103 p\u00e2n\u0103 la normalizarea hipernatremiei \u0219i osmolarit\u0103\u021bii serice, a poliuriei \u0219i polidipsiei \u0219i a st\u0103rilor de iritabilitate. Dup\u0103 10 zile de tratament cu tiazide prezint\u0103 Na seric 144 mEq\/l, osmolaritate seric\u0103 \u2013 294 mOsm\/kg, aport nutri\u021bional 150 ml\/kgc\/zi \u0219i diurez\u0103 4,5 ml\/kg\/h.<\/p>\n<p style=\"text-align: justify\"><strong><u>Discu<\/u><\/strong><strong><u>\u0163<\/u><\/strong><strong><u>ii <\/u><\/strong><\/p>\n<p style=\"text-align: justify\">Sindromul poliuro-polidipsic a fost evident tardiv \u00een evolu\u021bie iar ceea ce a atras aten\u021bia au fost valorile serice crescute persistente ale sodiului (Na) \u0219i presepsinei (PSP). Hipernatremia neonatal\u0103 este definit\u0103 ca valori ale sodiu (Na) seric mai mare de 150 mEq\/L. De\u0219i semnele clinice sunt rare, cu excep\u021bia convulsiilor cu debut tardiv, diagnosticul \u0219i tratamentul instituit precoce este necesar datorit\u0103 asocierii cu hemoragiile cerebrale.<\/p>\n<p style=\"text-align: justify\">Mecanismele etiopatogenice principale ale hipernatremiei sunt aportul crescut de Na, deficitul de ap\u0103 liber\u0103 sau pierdere simultan\u0103 de ap\u0103 \u0219i Na.<\/p>\n<p style=\"text-align: justify\">Diagnosticul diferen\u021bial al hipernatremiei la prematuri este dificil de f\u0103cut \u00een perioada imediat postnatal\u0103. Nou-n\u0103scu\u021bii prematuri, \u00een special VLBW, sunt mai predispu\u0219i la deshidratare hipernatremic\u0103 \u00een primele zile de via\u021b\u0103 datorit\u0103 pierderilor insensibile crescute la nivelul tegumentelor imature, respirator, aportului alimentar limitat \u0219i pierderilor renale. Tulbur\u0103rile hidroelectrolitice \u0219i renale \u00een primele s\u0103pt\u0103m\u00e2ni de via\u021b\u0103 ar putea fi datorate fie IRA asociate st\u0103rii septicemice, suferin\u021bei intrauterine fetal-renale induse de factorii de risc materni (HTA \u0219i fumat) \u0219i\/sau imaturit\u0103\u021bii renale (sub 34 de s\u0103pt\u0103m\u00e2ni gesta\u021bional)7. La aceste VG exist\u0103 incapacitatea concentr\u0103rii urinii datorat rezisten\u021bei la ADH cu sc\u0103derea expresiei canalelor de apa aquaporin-2 la nivelul tubilor colectori. Aceste particularit\u0103\u021bi ale func\u021biei tubulare renale ale prematurului se manifest\u0103 prin capacitate sc\u0103zut\u0103 de reabsorb\u021bie a electroli\u021bilor \u0219i a proteinelor \u0219i de a concentra urina secundar\u0103 \u0219i determin\u0103 o faz\u0103 poliuric\u0103 care poate masca\/\u00eent\u00e2rzia IRA la prematuri. Astfel, sc\u0103derea RFG precoce din cazul pacientului poate fi alarmant\u0103.<\/p>\n<p style=\"text-align: justify\">Aportul crescut de Na a fost exclus prin evitarea hiperalimenta\u021biei \u0219i administrarea solu\u021biilor intravenoase cu osmolaritate adecvat\u0103.<\/p>\n<p style=\"text-align: justify\">Hipernatremia chiar f\u0103r\u0103 deshidratare determin\u0103 simptome ale sistemului nervos central manifestate prin iritabilitate, letargie, pl\u00e2ns de tonalitate crescut\u0103 \u0219i hiperpnee. Hiperatremia poate determina febr\u0103 \u0219i\u00a0 se poate asocia cu hipercalcemie u\u0219oar\u0103 \u0219i hiperglicemie prin mecanisme necunoscute. Hipernatremia trebuie corectat\u0103 datorit\u0103 riscului de leziuni cerebrale \u0219i sechele neurologice mai ales la NN prematuri (hemoragii intraventriculare), hemoragii subdurale, subarahnoidiene, parenchimatoase.<\/p>\n<p style=\"text-align: justify\">\u00cen absen\u021ba deshidrat\u0103rii, ingestiei crescute de Na \u0219i a semnelor clinice ale acesteia (ex. edem pulmonar, cre\u0219terea \u00een greutate) se suspicioneaz\u0103 deficitul de ap\u0103 liber\u0103.<\/p>\n<p style=\"text-align: justify\">DI nefrogen (DIN) poate fi cauza genetic\u0103 sau dob\u00e2ndit\u0103. Stabilirea etiologiei este important\u0103 pentru stabilirea tratamentului adecvat \u0219i implica\u021biile diferite asupra prognosticului.<\/p>\n<p style=\"text-align: justify\">DIN dob\u00e2ndit debiteaz\u0103 tardiv dup\u0103 ac\u021biunea \u00eendelungat\u0103 a unor factori favorizan\u021bi (hipercalcemia, hipokalemia, antibiotice specifice, boli renale sau ureterale) care au fost absen\u021bi \u00een cazul prezentat.<\/p>\n<p style=\"text-align: justify\">DIN genetic debuteaz\u0103 din primele s\u0103pt de via\u021b\u0103 cu poliurie \u0219i polidipsie \u0219i este mai sever\u0103 dec\u00e2t forma dob\u00e2ndit\u0103. \u00cen evolu\u021bie mai pot prezenta febr\u0103, v\u0103rs\u0103turi, deshidratare, e\u0219ecul cre\u0219terii prin ingestia crescut\u0103 de lichide non calorice. Complica\u021biile pe termen lung pot fi hidronefroza neobstructiv\u0103, hidroureter \u0219i megavezic\u0103 datorit\u0103 ingestiei prelungite crescute de lichide. Simptomatologia sever\u0103 precoce a pacientului prezentat, tulbur\u0103rile hidroelectrolitice \u0219i renale \u0219i prezen\u021ba unei rude de sex masculin cu aceea\u0219i simptomatologie sugereaz\u0103 DIN congenital\u0103 probabil cu transmitere X lincat\u0103. Forma congenital\u0103 de DIN \u0219i modul de transmitere este eviden\u021biat \u0219i confirmat prin test genetic.<\/p>\n<p style=\"text-align: justify\"><strong><u>Concluzii<\/u><\/strong><\/p>\n<p style=\"text-align: justify\">Tulbur\u0103rile renale sunt frecvente la nou-n\u0103scutul prematur \u00een primele s\u0103pt\u0103m\u00e2ni de via\u021b\u0103. Adesea acestea sunt tranzitorii dar fac dificil\u0103 depistarea bolilor renale congenitale. DIN este o afec\u021biune rar\u0103, iar debutul \u00een perioada neonatal\u0103 este un semn de severitate \u0219i cauzalitate ereditar\u0103\/congenital\u0103. De\u0219i nu exist\u0103 un tratament specific, diagnosticul precoce \u0219i instituirea tratamentului simptomatic (diet\u0103 \u0219i diuretice tiazidice) al\u0103turi de monitorizarea multidisciplinar\u0103 (neonatologie, pediatrie, nefrologie, endocrinologie) poate reduce complica\u021biile pe termen lung.<\/p>\n<p style=\"text-align: justify\">\n","protected":false},"excerpt":{"rendered":"<p>Autor: Dr. Leonard N\u0103stase \u2022 neonatologie Biol. medical pr. Maria Cernahoschi, Dr. chimist medical Pr. Mirela Sm\u0103r\u0103ndoiu INSMC- SPITALUL CLINIC OG \u201cPOLIZU\u201d Rezumat Diabetul insipid este o boal\u0103 rar \u00eent\u00e2lnit\u0103 [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":10616,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[429],"tags":[],"class_list":["post-10615","post","type-post","status-publish","format-standard","has-post-thumbnail","category-ginecologie"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.0 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Diabetul insipid congenital la\u00a0prematur - Jurmed - Medici<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/jurmed.ro\/medici\/diabetul-insipid-congenital-la-prematur\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Diabetul insipid congenital la\u00a0prematur - Jurmed - Medici\" \/>\n<meta property=\"og:description\" content=\"Autor: Dr. Leonard N\u0103stase \u2022 neonatologie Biol. medical pr. Maria Cernahoschi, Dr. chimist medical Pr. 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