Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Nefrologia (Engl Ed)
; 40(3): 351-355, 2020.
Article
en En, Es
| MEDLINE
| ID: mdl-31862184
ABSTRACT
INTRODUCTION:
In children, chronic pancreatitis (CP) is usually associated with anatomical anomalies of the pancreas and biliary tract or is genetically determined. Autosomal dominant polycystic kidney disease (ADPKD) may present with extrarenal cyst formation, sometimes involving the pancreas. Large enough, these cysts may cause pancreatitis in ADPKD patients. CASE PRESENTATION Herein, we present a case of a 12-year-old Caucasian girl with recurrent pancreatitis with no identifiable traumatic, metabolic, infectious, drug, or immunologic causes. Structural anomalies of the pancreas, including cysts, were ruled out by imaging. However, bilateral cystic kidneys were found as an incidental finding. Her family history was negative for pancreatitis, but positive for polycystic kidney disease. Molecular analysis of ADPKD-causing mutations revealed a novel c.9659C>A (p.Ser3220*) mutation in the PKD1 gene confirming the clinical suspicion of ADPKD. Although CP may rarely occur as an extrarenal manifestation of ADPKD with pancreatic cysts, it is unusual in their absence. Thus, molecular analysis of pancreatitis susceptibility genes was performed and a homozygous pathologic c.180C>T (p.G60=) variant of the CTRC gene, known to increase the risk of CP, was confirmed.CONCLUSION:
This is the first reported case of a pediatric patient with coincidence of genetically determined CP and ADPKD. Occurrence of pancreatitis in children with ADPKD without pancreatic cysts warrants further investigation of CP causing mutations.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Quimotripsina
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Riñón Poliquístico Autosómico Dominante
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Pancreatitis Crónica
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Canales Catiónicos TRPP
Tipo de estudio:
Prognostic_studies
Límite:
Child
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Female
/
Humans
Idioma:
En
/
Es
Año:
2020
Tipo del documento:
Article