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Alice nel paese delle meraviglie: un caso di ipercalcemia neonatale
Università degli Studi di Roma “La Sapienza”
Master in Terapia Intensiva Pediatrica (0-18) anni Direttore: Prof. Corrado Moretti
Anno Accademico 2015-2016
Dott.ssa Iolanda CHINELLATOS.C. Pediatria, P.O.C. SS. Annunziata, Taranto
Once upon a time...Alice 13/11/2016
- Nata a termine da PS
- Apgar 1' 5, 5' 9
- P nascita 2,850 kg
- P dimisione 2,670 kg(15/11/2016)
- P controllo 2,715 kg(18/11/2016)
Latte materno +15 gr/die
Once upon a time...Alice 20/11/2016
Alice 21/11/2016 (8 gg di vita)...a casa
- Condizioni generali discrete, rosea, lieve maschera ecchimotica (?),lieve ipotrofia della radice degli arti
- ipotonia lieve generalizzata
- riflessi presenti, seppur rallentati in particolare di suzione
-OC: normale, FC 130 bpm; polsi periferici presenti
OT: MV normoudibile, FR 50/m
P= 2,500 kg (- 215 gr in tre gg!)
30:2 single rescuer15:2 2 HCP rescuers
Recognition of cardiac Arrest
Signs of cardiac arrest are:
1. Unresponsiveness2. No breathing or only gasping3. No pulse (assess for no more than 10 seconds)
Rate of survival to hospital dischage if the arrest occurs in
hospital (33%) compared with out of hospital (6-8%)
Multicenter Cohort Study of In-Hospital Pediatric Cardiac Arrest Kathleen L.Meert, Pediatr Crit Care Med. 2009 September ; 10(5): 544–553.
Bystander CPR is associated with improved outcomes in children with OHCA.
Among infants there was no benefit of BCPR unless ventilations were provided.
3900 children younger than 18 years with OHCA,
2317 (59.4%) were infants, 2346 (60.2%) were female
Association of Bystander Cardiopulmonary Resuscitation With Overall andNeurologically Favorable Survival After Pediatric Out-of-Hospital Cardiac Arrest
in the United States: A Report From the Cardiac Arrest Registry to EnhanceSurvival Surveillance Registry. Naim MY, JAMA Pediatr. 2016
Alice 21/11/2016...in TIN a Bari
Ap
nea
? S
epsi
? C
ard
iop
atia
?
Valutazione cardiologica ed ecg normale
Ecografia encefalo normale
Azotemia 59 mg/dl
Sodiemia 144 mmol/L
Potassiemia 4,5 mmol/L
Calcio tot 27,2 mg/dl (vn 8,6-11,8)
Calcio ionizzato 13 mg/dl (vn 4,6-5,3)
Fosfato 3,3 mg/dl
Glucosio 102 mg/dl
ALP 239 U/l
Proteine totali 5,3 g/dl
Urato 9,4 mg/dl
PTH 465 pg/ml (6,5-36,8)
1,25 diidrossivitamina D 33,1 pg/ml
PCR negativa
Ipercalcemia
Neonati prematuri
Calcio totale > 9,2 mg/dl
Calcio ionizzato > 5,8 mg/dl
Neonati a termine
Calcio totale > 10,4 mg/dl
Calcio ionizzato > 5 mg/dl
Bambini e adolescenti
Calcio totale > 10,8 mg/dl
Calcio ionizzato > 5 mg/dl
Crisi ipercalcemica (> 14 mg/dl):
disidratazione, ipertensione e convulsioni, coma e morte.
Neonatal severe hyperparathyroidism caused by homozygous mutation inCASR: A rare cause of life-threatening hypercalcemia. Heidi Murphy
European Journal of Medical Genetics 2016;59(4):227-231
Treatment of NSHPT traditionally includes hydration andbisphosphonates; however newer calcimimetic agents, such as
cinacalcet.
Medical treatment success is related to calcium sensing receptor(CaSR) genotype.
Neonatal severe hyperparathyroidism (NSHPT) is a rare, life-threateningcondition that presents with severe hypercalcemia, hyperparathyroidism, and
osteopenia in the newborn period.
Calcium-sensing receptor 20 years later. Alfadda TI, Am JPhysiol Cell Physiol. 2014;307(3):C221-31.
Surgical treatment of children with hyperparathyroidism:Single centre experience.
S. Alagaratnam, Journal of Pediatric Surgery 2014;49:1539-1543
Parathyroidectomy remains the treatment of choice
and is often required though technically difficult in newborns
Parathyroid gland localization may be challenging and
supernumerary parathyroid tissue is not uncommon
Intraoperative Parathyroid Hormone Monitoring in Neonatal Severe PrimaryHyperparathyroidis.García-García, Pediatrics 2014;134
Intraoperative PTH monitoring takes advantage of the short plasma half-life (3–5 minutes) of PTH and a rapid assay technique that allows
measurements while the patient is still in the operating room.
A relative drop in PTH level into the normal range is suggestive ofadequate removal of hyperfunctioning parathyroid tissue.
For localization of an occult gland, biateral jugular venous sampling forPTH can be performed at the time of exploration.
Intraoperative PTH monitoring
is useful providing real-timeconfirmation of surgical cure in NSPH
Alice 13/12/2016... Ospedale Gaslini per Paratiroidectomia
Omozigote per CASR mutations (genitori figli di procugini)
In trattamento conCinacalcet, Bifosfonati, iperidratazione,
latte a basso contenuto di calcio eparenterale senza calcio
Peso 2,970
Calcio tot 11,6 mg/dl
Calcio ionizzato 5 mg/dl
In attesa di consulto multidisciplinare perintervento chirurgico
To be
continu
ed...
GRAZIEal Prof. Nicola Laforgia, Direttore della UTIN di Bari, alla sua equipe, a
tutti gli Specialisti dell'Ospedale Gaslini di Genova che hanno reso e
renderanno possibile la sopravvivenza di Alice