Saturday, August 1, 2009

What is Pancreatic Agenesis

Here I am again, my second entry for the day, I am on a roll.

I have been asked quite often "What is pancreatic Agenesis" and the easiest explanation is that "The pancreas is absent", well that is the easy explanation but below gives a good description.

Pancreatic agenesis is a rare cause of neonatal diabetes mellitus and the knowledge about the clinical features is sparse. A patient with pancreatic agenesis and double outlet right ventricle is reported. This association has not previously been reported. In addition a synopsis of the patients (n = 14) with pancreatic agenesis who have hitherto been described is given. METHOD: We studied one patient and obtained information on 13 additional patients with pancreatic agenesis by reviewing literature. RESULTS: Literature review: In one patient the pregnancy was terminated at 19 weeks. 31 % (4/13) of the infants died in the first week and 69 % (9/13) in the first six weeks of live, 17 % (2/12) were born preterm and 83 % (10/12) at term, 93 % (13/14) had severe intrauterine growth restriction, onset of diabetes was in 6 out of 10 infants during the first two days of live, ketonuria is rare and has been reported only once. 64 % (9/14) of the infants with pancreatic agenesis had additional malformations mainly of the biliary system (50 %) and/or the heart (36 %). 31 % (4/13) of the infants survived the neonatal period and developed normally. Failure to thrive was compensated by catch-up growth after replacement of pancreatic enzymes and surgical correction of the cardiac malformation. CONCLUSIONS: Pancreatic agenesis is a clinical entity characterized by severe intrauterine growth retardation, early onset of permanent neonatal diabetes mellitus without ketoacidosis, failure to thrive due to pancreatic exocrine dysfunction and associated malformations mainly of the biliary system or of the heart. Because of the high neonatal mortality, awareness of pancreatic agenesis as a possible cause of severe intrauterine growth restriction is important for the optimal treatment of diabetes mellitus, exocrine pancreatic insufficiency and the associated malformations.

I know its a bit in depth but that is one of the best explantions Ive come across, the girl in which this paper was written on is a German Girl and its so eerily similiar to Sarah, there has actually been no further mention of this girl since this paper so its not known if she is still alive.

Onto Sarah its beena hell of a Month with being admitted to hospital 3 times! First time was for 8 days after a reaction to her immunisations which she actually didnt receive them all! We were home for a week before she came down with Bronchiolitis and back in for 3 days needing extra oxygen support, then home for only 2 days before we were back in again with high sugars and high ketones. She has now developed a nasty chest infection but for the moment we are at home!!!

We saw her Neonatiologist 2 weeks ago and he is exremely happy with her and her progress, we continue to make changes to her management plan and her Paed is keeping a very close eye on her.

Ill sign off with an article that was in the paper a few weeks ago,21985,25806098-661,00.html

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