Rupture of renal cyst secondary to blunt trauma: case report and review of the literature

Abstract

Rupture of a renal cyst can be spontaneous, iatrogenic or consequent to a trauma even of minor entity, especially in predisposing conditions such as cysts, tumors or hydronephrosis.

Kidneys are, in fact, involved in about 25% of abdominal traumas. The grading system of the American Association for the Surgery of Trauma (AAST) classifies renal injuries into five categories based on renal involvement and abnormalities detected on contrast-enhanced CT, modality of choice in the evaluation of abdominal trauma with suspicion of intraperitoneal hemorrhage.

Hematuria and/or flank pain are the most frequent presenting symptoms, although some patients may be also asymptomatic.

Treatment is usually conservative, but sometimes nephrectomy may be necessary.

In our manuscript we describe the case of a patient who comes to our observation with left side pain reporting a minor accidental fall occurred the day before.

Ultrasound examination and CT with contrast medium revealed hemoretroperitoneum resulting from rupture of a hemorrhagic renal cyst. We will describe the imaging characteristics and therapeutic choices below.

Keywords: renal cyst, renal hemorrhage, blunt renal trauma, hemoperitoneum

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Introduzione

Le cisti renali semplici rappresentano le masse renali più comuni, infatti nella popolazione generale si stima che circa il 50% delle persone con più di 50 anni ne abbia almeno una [1, 2]. Solitamente sono asintomatiche, ma in alcuni casi possono causare ostruzione, infezione o emorragia. La presenza di cisti inoltre rappresenta un fattore di rischio aggiuntivo nel coinvolgimento dei reni nei traumi addominali. La rottura post-traumatica di una cisti renale può avvenire nel sistema collettore, nello spazio subcapsulare e perinefritico, nel retroperitoneo o nella cavità peritoneale. L’emorragia renale massiva è un evento relativamente raro [3].

 

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A child with severe growth delay and renal cysts

Abstract

We describe the case of a 5-year-old who came to our attention for a growth delay. Among the investigations planned because of the child’s short stature, we performed an abdominal ultrasound showing normal-sized kidneys with signs of cortico-medullar de-differentiation, diffuse medullary hyperechogenicity with reduction of cortical thickness and cortical-medullary cysts. The ultrasound findings, also confirmed in MRI, led us to suspect a genetically determined cystic nephropathy of the nephronophthisis or medullary cystic disease type. No mutation was identified in NPHP1, HNFb1 and UMOD genes. Interestingly, laboratory investigations revealed a severe metabolic acidosis with normal renal function and hypokalemia. These findings are not characteristics of a nephronophthisis. We therefore also performed molecular analysis for distal tubular acidosis (dRTA) that showed the association of two genetic variants of ATP6V1B1 and SLC4A genes. These “double mutations” have been inherited from the mother, which however does not have the classic dRTA phenotype. These variants do not currently meet the criteria for a conclusive molecular diagnosis of dRTA but represent variants of uncertain clinical significance. However, considering the clinical and laboratory data one can reasonably conclude that the child has a “probable” diagnosis of distal tubular acidosis. The rapid recovery of staturo-ponderal growth after the start of alkalizing treatment supports our diagnostic hypothesis. The association between distal tubular acidosis and renal cysts is well described in the literature. The hypothesis is that chronic hypokalemia may play a possible role in the formation of renal cysts.

Keywords: growth delay, renal cysts, tubular acidosis, ipokalemia

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Caso clinico

Descriviamo il caso di GL, maschio di 4 anni e mezzo che viene inviato dal pediatra curante all’ambulatorio di endocrinologia pediatrica per iposomia. Il bambino è nato a termine da parto spontaneo, senza problemi perinatali, l’acquisizione delle tappe psicomotorie è risultata nella norma.  

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