# Gaucher Disease in Internal Medicine and Dentistry
## 3 GD in Internal Medicine
suggested that the body weight gain of GD subjects was not related to the ERT, but to the physiological aging [8]. In fact, the trend in body weight gain seems to be more related to the enhanced caloric intake and to the sedentariness [5]. Moreover, GD is related to insulin resistance. GM3 is one of the sphingolipids that seems to be associated with the interference in insulin signaling by (i) relocating insulin receptor in lipid raft domains, by (ii) compromising insulin receptor interaction and by (iii) lowering one of the pathways of insulin signaling (PI(3)K/Akt) [9]. GD patients register an increase in the glucose production, a reduction in the glucose clearance and, thus, higher levels of insulin [7; 10]. It has been hypothesized that insulin resistance is not related to overweight caused by ERT, because it was also observed in non-overweight GD subjects on ERT [5; 11]. Therefore, alterations in lipid metabolism and trafficking, affecting gangliosides (GM3), phosphatidylinositololine and sphingomyelin, were observed [12]. In addition, a decrease in blood levels in total, low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol, in apolipoprotein B (ApoB) and apolipoprotein AI (ApoAI), and an increase in plasma concentrations of triglycerides and apolipoprotein E (ApoE) were reported [13; 14]. \begin{table}
\begin{tabular}{c c c c c c} \hline \hline
**Type of the Study** & **Authors** & **Year** & **Number of Patients** & **Description of the Study** & **Findings** \\ \hline \multirow{4}{*}{Observational} & \multirow{4}{*}{[PERSON] et al.} & & \multirow{4}{*}{1997} & Assessment of: & \(\uparrow\) Glucose production in \\  & & & & REE & GD patients \\  & & & & Liver and spleen volume & \(\downarrow\) REE \\  & & & 12 GD type I adult & & Hemoglobin & \(\uparrow\) Body Weight \\  & & [7] & & patients & Platelet count & \(\uparrow\) Hemoglobin and platelet \\  & & & & before and after 6 months & count \\  & & & & of alglucerase therapy & \(\downarrow\) Liver and spleen \\ \hline \multirow{4}{*}{Observational} & \multirow{4}{*}{[PERSON] et al.} & & \multirow{4}{*}{2008} & \multirow{4}{*}{35 type I GD patients} & \multirow{4}{*}{Evaluation of:} & 6\% of prevalence of IR in \\  & & & & ERT patients & \(\uparrow\) REM patients \\  & & & & & ERT patients \\  & & & 7 untreated type I & Type II diabetes & 0\% of prevalence of IR in \\  & & & GD patients & prevalence & untreated patients \\  & & & & & 0\% of prevalence of DMT2 \\  & & & & & in untreated patients \\ \hline \multirow{4}{*}{Cross-sectional} & \multirow{4}{*}{[PERSON] et al.} & \multirow{4}{*}{2009} & \multirow{4}{*}{14 non-overweight GD patients treated with ERT} & \multirow{4}{*}{Measurement of insulin resistance by HOMA-IR} & 6.6\% of prevalence of IR \\  & & & & & \(\uparrow\) HOMA-IR compared to \\ \cline{1-1}  & & & & & healthy controls \\ \cline{1-1}  & & & 14 non-overweight GD patients treated with ERT & & resistance by & \(\uparrow\) post-loading glucose \\ \cline{1-1}  & & & & & HOM-IR & compared to healthy \\ \cline{1-1}  & & & & & OGTT & controls \\ \cline{1-1}  & & & & & \(\uparrow\) fasting and postloading \\ \cline{1-1}  & & & & & insulin compared to \\ \cline{1-1}  & & & & & healthy controls \\ \hline \hline \end{tabular}
\end{table} 
Table 1: GD manifestations and internal medicine. * _Kidney involvement_ According to the literature, only few cases of renal involvement in GD were described [15; 16] (Table 2). A small number of studies showed renal involvement when subjects were alive [15; 17; 18] instead; other kidney findings were detected during the autopsy [19; 20]. In presence of kidney involvement, glomerular abnormalities were described. GCs infiltration causes tubular enlargements, capillary occlusion, mesangial cells and matrix proliferation. Moreover, the thickening of basement membranes and the sclerosis of many glomeruli were observed [15; 21]. In two studies, the immunofluorescence was performed: the first by [PERSON] et al. [15] produced a negative result, while in the second one, [PERSON] et al.