[Retrospective analysis of epidemiological and clinical aspects of acute pancreatitis in children]. / Retrospektywna analiza epidemiologiczna i kliniczna ostrego zapalenia trzustki u dzieci.

UNLABELLED: Acute pancreatitis (AP) is becoming more frequent cause of hospitalization in children. There are no guidelines concerning optimal medical treatment in this condition, up to know. The aim of the study was the epidemiological and clinical assessment of AP in pediatric population. The evaluation of influence of administered pharmacotherapy on symptoms remission and the time of laboratory tests normalization. MATERIAL AND METHODS: There were 54 patients with AP, in the age of 3, 5-18 years, admitted to our hospital between 1994-2011. The investigation was led on the basis of retrospective analysis of medical data. RESULTS: 41 (75%) patients were admitted with the first episode of AP. The oedematous pancreatitis was confirmed in 49 patients (91%) and necrotizing pancreatitis in 5 cases (9%). The cause of the condition was determined in 44 cases. The most common clinical symptoms were epigastric pain (94%) and vomiting (43%). CONCLUSIONS: There was no statistically significant difference in the time of obtaining normal range of serum and urine amylase activity and relief of symptoms according to administered pharmacotherapy and nutritional therapy

[Familial case of oral-facial-digital syndrome type 1 (OFD 1)]. / Rodzinny przypadek zespolu ustno-twarzowo-palcowego typu 1 (OFD 1).

UNLABELLED: Ciliopathies are phenotypically and genetically heterogeneous disorders that share ciliary dysfunction as a common pathological mechanism. Ciliary dysfunction results in a broad range of malformations including renal, hepatic and pancreatic cysts, visceral abnormalities, retinal degeneration, anosmia, cerebellar or other brain anomalies, polydactyly, bronchiectasis and infertility. The paper presents a familial case of oral-facial-digital syndrome type 1 in 14 year old girl suspected to polycystic kidney disease. CONCLUSIONS: Molecular testing in daughters of known OFD1 mutation carriers and mothers of affected daughters seems to be reasonable. Not each case of policystic kidney disease which looks like autosomal dominant policystic kiedney disease is actually the above disease. The insight into the pathogenesis of ciliopathies is mandatory for understanding these combined congenital anomaly syndromes of seemingly unrelated symptoms of hepatorenal and pancreatic fibrocystic disease. Close interdisciplinary approach is mandatory in terms of efficient and reliable diagnostic and therapeutic interventions in patients presenting with ciliopathies.