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Doina Mihaila

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

ACTUALITATI IN DIAGNOSTICUL SI TERAPIA HEPATOBLASTOMULUI PEDIATRIC CU METASTAZE PULMONARE

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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ACTUALITATI IN DIAGNOSTICUL SI TERAPIA HEPATOBLASTOMULUI PEDIATRIC CU METASTAZE PULMONARE

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REZUMAT

Deşi frecvenţa hepatoblastomului este redusă, acesta reprezintă cea mai comună tumoră hepatică primară malignă a copilului. Prognosticul bolii s-a îmbunătăţit considerabil în ultimele decenii, datorită progreselor terapeutice oncologice şi chirurgicale. Totuşi, tumorile aflate într-un stadiu avansat la momentul diagnosticului au în continuare un prognostic rezervat. Prezentăm cazul unui copil de 2 ani şi 9 luni, diagnosticat în februarie 2014 cu hepatoblastom, cu risc înalt (metastaze pulmonare), pentru care s-a intervenit chirurgical practicându-se excizia completă a tumorii. Ulterior, s-a iniţiat chimioterapie conform protocolului SIOPEL-4 modificat: astfel, blocurile de chimioterapie care ar fi trebuit administrate preoperator au fost utilizate postoperator. După finalizarea chimioterapiei, examenul CT toraco-abdominal efectuat în septembrie 2014 a indicat răspuns complet al bolii la tratament. Evaluarea periodică a pacientului a relevat până în prezent absenţa semnelor de recidivă locală tumorală, absenţa metastazelor şi un status de performanţă de 80 pe scala Lansky. Utilizarea terapiilor moleculare ţintite, a transplantului hepatic şi a unor noi chimioterapice poate reprezenta în viitor o modalitate de îmbunătăţire a prognosticului pacienţilor cu hepatoblastom cu risc înalt. De asemenea, modificarea protocoalelor de chimioterapie ar putea reprezenta o opţiune pentru îndeplinirea acestui scop.

Cuvinte cheie: metastaze pulmonare, protocol SIOPEL-4, răspuns tumoral complet.

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UPDATES ON THE DIAGNOSIS AND TREATMENT OF PEDIATRIC HEPATOBLASTOMA WITH PULMONARY METASTASES

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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ICMJE- Recommendations

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Promoting Global Health

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UPDATES ON THE DIAGNOSIS AND TREATMENT OF PEDIATRIC HEPATOBLASTOMA WITH PULMONARY METASTASES

, , , and

ABSTRACT

Although the frequency of hepatoblastoma is low, it is the most common primary malignant liver tumor in children. The prognosis of the disease has improved considerably in the last decades due to oncological and surgical treatment advances. Nonetheless, tumors which are diagnosed at an advanced stage still have a poor prognosis. We present the case of a 33-month-old child, diagnosed with high-risk hepatoblastoma (pulmonary metastases) in February 2014. Surgery was performed and the tumor completely removed. Afterwards, chemotherapy treatment was initiated according to a modified SIOPEL-4 protocol – the chemotherapy blocks which should have been administered before surgery were received after the operation. After finishing the chemotherapy, the thoraco-abdominal CT scan indicated a complete response to treatment. The periodic evaluation of the patient revealed the absence of local tumor recurrence, the absence of metastases, and a Lansky performance status of 80 up to now. The administration of targeted molecular therapies, liver transplant, and new chemotherapy drugs could improve the prognosis for patients with high risk hepatoblastoma in the future. Also, modifying the chemotherapy protocols could be considered an option in the achievement of this goal.

Keywords: pulmonary metastases, SIOPEL-4 protocol, complete tumor response.

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POLIMORFISMUL MANIFESTARILOR CLINICE IN BOALA CELIACA LA COPIL

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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ICMJE- Recommendations

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Promoting Global Health

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POLIMORFISMUL MANIFESTARILOR CLINICE IN BOALA CELIACA LA COPIL

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REZUMAT

Boala celiacă (BC) reprezintă o afecţiune sistemică autoimună produsă prin sensibilizarea la gluten la pacienţii cu predispoziţie genetică. Manifestările clinice ale BC sunt extrem de variate, de la sindromul tipic de malabsorbţie intestinală (caracterizat prin diaree cronică, meteorism abdominal şi malnutriţie) la simptome atipice care pot afecta orice sistem sau organ: constipaţie cronică, hepatocitoliză persistentă, anemie refractară la tratamentul cu fier, dureri abdominale recurente, afecţiuni neurologice, defect al smalţului dentar. Autorii prezintă patru pacienţi de vârstă pediatrică diagnosticaţi cu diferite forme atipice de boală celiacă: forma cu dureri abdominale recurente, cu sindrom de hepatocitoliză şi formă cu constipaţie cronică, toate însoţite de falimentul creşterii şi un caz de diabet zaharat tip I asociat cu boală celiacă. În concluzie, este necesară cunoaşterea tuturor formelor clinice ale bolii celiace de către medicul pediatru, gastroenterolog şi medicul de familie pentru a diagnostica boala la vârsta copilăriei şi, astfel, să prevină complicaţiile pe termen lung, respectiv osteoporoza, infertilitatea si limfomul intestinal.

Cuvinte cheie: boală celiacă, manifestări clinice, diabet zaharat tip I, copil

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POLYMORPHISM OF THE CLINICAL SIGNS OF CELIAC DISEASE IN CHILDREN

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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ICMJE- Recommendations

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Promoting Global Health

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POLYMORPHISM OF THE CLINICAL SIGNS OF CELIAC DISEASE IN CHILDREN

, , , and

ABSTRACT

Celiac disease (CD) is an autoimmune systemic condition caused by sensitivity to gluten in genetically predisposed patients. The clinical signs of CD are extremely diverse, ranging from the typical intestinal malabsorption syndrome (characterized by chronic diarrhea, abdominal distension and malnutrition) to atypical symptoms that may involve any system or organ: chronic constipation, increased level of liver enzymes, iron deficiency anemia, recurrent abdominal pain, neurological conditions, tooth enamel erosion. The authors report four pediatric cases diagnosed with various atypical forms of celiac disease: the form associated with recurrent abdominal pain and increased level of liver enzymes, and the form associated with chronic constipation, all accompanied by failure to thrive and one case of type I diabetes mellitus associated with celiac disease. To conclude with, pediatricians, gastroenterologists and general practitioners should be familiar with all the clinical forms of coeliac disease in order to be able to diagnose this childhood disease and thus prevent long-term complications like osteoporosis, infertility and intestinal lymphoma.

Keywords: celiac disease, clinical signs, type I diabetes mellitus, child

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NECROZA TUBULARA ACUTA PRIN ACTIUNEA NEFROTOXICA MEDICAMENTOASA – CAUZA RARA DE SINDROM NEFROTIC LA COPIL

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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ICMJE- Recommendations

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Promoting Global Health

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NECROZA TUBULARA ACUTA PRIN ACTIUNEA NEFROTOXICA MEDICAMENTOASA – CAUZA RARA DE SINDROM NEFROTIC LA COPIL

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REZUMAT

Sunt prezentate două cazuri de sindrom nefrotic (SN) indus de medicamente cu nefrotoxicitate la nivel tubular, cu evoluţie diferită în contextul maladiilor incriminate etiologic.

Fetiţă în vârstă de 5 luni internată cu SN (dovedit clinic şi biologic) şi insuficienţă renală acută, după o spitalizare în alt servici pentru bronhopneumonie. Fetiţa a fost tratată cu ceftriaxonă şi gentamicină 12 zile. Suspiciunea de SN congenital a fost înlăturată de evidenţierea necrozei tubulare renale în fază de recuperare (biopsie renală). Evoluţia a fost favorabilă în 7 zile sub dializă peritoneală.

Adolescentă de 16 ani cu boală Basedow tratată de 3 ani cu carbimazol. S-a prezentat cu sindrom nefrotic care nu a fost influenţat de corticoterapie. Examenul histopatologic a evidenţiat necroză tubulară toxică, fibroză interstiţială, absenţa leziunilor glomerulare. A fost sistat tratamentul nefrotoxic, s-a practicat tiroidectomie după care edemele s-au redus, dar funcţia renală a continuat să se deprecieze, în condiţiile terapiei nefrotoxice administrată timp de 3 ani.

Concluzii. Necroza tubulară renală exprimată clinic şi biologic prin sindrom nefrotic, însoţit de insuficienţă renală este o situaţie rară la copil; gentamicina şi carbimazolul pot fi incriminate etiologic. Suferinţa renală poate fi ameliorată sau nu prin înlăturarea medicamentului cauzal. Eşecul terapeutic s-a corelat cu durata agresiunii medicamentoase şi evoluţia unor comorbidităţi.

Cuvinte cheie: necroză tubulară, sindrom nefrotic, insuficienţă renală acută

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DRUG INDUCED ACUTE TUBULAR NECROSIS – RARE CASE OF NEPHROTIC SYNDROME

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 4, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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Promoting Global Health

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DRUG INDUCED ACUTE TUBULAR NECROSIS – RARE CASE OF NEPHROTIC SYNDROME

, , , , and

ABSTRACT

We presented two cases of nephrotic syndrome (NS) drug-induced with tubular nephrotoxicity, with different evolution in the context of etiologic diseases.

First is 5-month-old girl admitted with NS (clinically and biological proven) and acute renal failure after another hospitalization for pneumonia. The girl was treated with ceftriaxone and gentamicin 12 days. Congenital NS suspicion was eliminated by renal biopsy who revealed renal tubular necrosis highlighting recovery phase. The development was favorable in 7 days of peritoneal dialysis.

The second case was 16 years old adolescents treated 3 years with carbimazol for Basedow disease. Was presented with nephrotic syndrome not influenced by corticosteroids. Histopathology revealed toxic tubular necrosis, interstitial fibrosis, absence of glomerular injury. Nephrotoxic treatment was stopped, and, after thyroidectomy, edema were reduced, but kidney function continued to depreciate, while nephrotoxic therapy given for 3 years.

Conclusions. Renal tubular necrosis clinical and laboratory expressed by nephrotic syndrome, accompanied by renal insufficiency is a rare occurrence in children; gentamicin and carbimazol can be criminalized. The suffering or impairment may be improved by removing the causative drug. Treatment failure was associated with duration of drug aggression and evolution of comorbidities.

Keywords: acute tubular necrosis, nephrotic syndrome, acute renal failure

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DEBUT SI EVOLUTIE INTR-UN CAZ DE BOALA GAUCHER TIP 2

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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DEBUT SI EVOLUTIE INTR-UN CAZ DE BOALA GAUCHER TIP 2

, , , and

REZUMAT

Boala Gaucher este cea mai frecventă maladie lizozomală, cu transmitere autosomal recesivă. Boala se datorează deficitului enzimei glucocerebrozidază, rezultând în acumularea de glucocerebrozide în toate organele. Diagnosticul se stabileşte prin măsurarea activităţii enzimei. Dintre formele clinice, tipul 2 este cel mai rar şi are prognosticul cel mai sumbru. Prezentăm cazul unui sugar depistat la vârsta de 5 luni cu simptome neurologice şi evoluţia lui ulterioară cu hepatosplenomegalie masivă, fiind diagnosticat cu tipul 2 de boală Gaucher.

Cuvinte cheie: boală lizozomală, boală Gaucher tip 2, manifestări neurologice, hepatosplenomegalie, activitatea glucocerebrozidazei

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TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

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Revista Romana de PEDIATRIE | Volumul LXIV, Nr. 3, An 2015
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

, , , and

ABSTRACT

Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme deficiency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis. We present the case of an infant found at 5 months of age with neurological symptoms and his subsequent evolution with massive hepatosplenomegaly, being diagnosed with type 2 Gaucher disease.

Keywords: lysosomal storage disorder, type 2 Gaucher disease, neurological manifestations, hepatosplenomegaly, glucocerebrosidase activity

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Mycofenolate mofetil versus cyclophosphamide for steroid-resistant nephrotic syndrome in children

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Revista Romana de PEDIATRIE | Volumul LX, Nr. 2, An 2011
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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ICMJE- Recommendations

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Promoting Global Health

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Mycofenolate mofetil versus cyclophosphamide for steroid-resistant nephrotic syndrome in children

, , , , , , , and

ABSTRACT

The management of patients with steroid-resistant nephrotic syndrome is difficult. We report our experience on treatment with Mycophenolate mofetil versus Cyclophosphamide, in a retrospective analysis of 54 cases of idiopathic steroid-resistant nephrotic syndrome with different histological aspects. The complete and sustained remission rate was 50% for Mycophenolate, which confirm the efficacy of treatment, higher than with Cyclophosphamide (39.53%).

Key words: nephrotic syndrome, mycophenolate mofetil, cyclophosphamide, steroid-resistancy

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MYCOFENOLATUL DE MOFETIL VERSUS CICLOFOSFAMIDA IN SINDROMUL NEFROTIC CORTICOREZISTENT LA COPII

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Revista Romana de PEDIATRIE | Volumul LX, Nr. 2, An 2011
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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MYCOFENOLATUL DE MOFETIL VERSUS CICLOFOSFAMIDA IN SINDROMUL NEFROTIC CORTICOREZISTENT LA COPII

, , , , , , , and

REZUMAT

Managementul pacienţilor cu sindrom nefrotic corticorezistent (SNCR) este dificil. Vom prezenta experienţa noastrǎ în tratamentul cu Mycofenolat de mofetil versus Ciclofosfamidǎ, într-o analizǎ retrospectivǎ a 54 de cazuri cu sindrom nefrotic corticoresistent idiopatic cu aspecte histologice diferite. Rata remisiunii complete şi susţinute a fost de 50% pentru Mycofenolat, ceea ce confirmǎ eficienţa tratamentului, aceastǎ ratǎ fiind mai mare decât în tratamentul cu Ciclofosfamidǎ (39,53%).

Cuvinte cheie: sindrom nefrotic, mycofenolat de mofetil, ciclofosfamidă, corticorezistenţǎ

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