Hepatomegaly and short stature in a 14-year-old with type 1 diabetes mellitus: case report.

BACKGROUND: Mauriac syndrome is a rare consequence of poorly controlled insulin-dependent diabetes, characterized by hepatomegaly, growth failure, delayed onset of puberty, and cushingoid features. Case reports of patients with Mauriac syndrome are found infrequently in the literature given historic improvements in diabetes management due to readily available insulin therapy. METHODS: We describe a case of a 14-year-old girl who presented with acute onset abdominal pain, distention, and orthopnea. RESULTS: She had a history of poorly controlled insulin-dependent diabetes as well as short stature. Abdominal imaging revealed impressive hepatomegaly. Laboratory testing showed markedly elevated triglycerides and cholesterol. Mauriac syndrome was suspected and diagnosed by liver biopsy, which demonstrated significant glycogenic hepatopathy. CONCLUSIONS: This case provides an illustrative example of Mauriac syndrome in a child who did not experience delayed onset of puberty and continued to have regular menses unlike what has been previously described. Furthermore, this case highlights the important consideration for significant dyslipidemia in patients with Mauriac syndrome and discusses the challenges of controlling insulin-dependent diabetes in the adolescent population.

Renal transposition during minimally invasive partial nephrectomy: a safe technique for excision of upper pole tumors.

Minimally invasive partial nephrectomy (MIPN) for upper pole masses, particularly for those located posteriorly, is challenging because of difficult visualization during tumor resection and renorrhaphy. Complete renal transposition facilitates access to and excision of upper pole renal masses during MIPN. Sixteen patients with upper pole renal masses underwent laparoscopic or robot-assisted partial nephrectomy with renal transposition from October 2009 to March 2012 with a mean follow-up of 22 months. Mean operative time was 242.6 minutes, and mean warm ischemic time was 14.7 minutes. No patient needed an intraoperative or postoperative blood transfusion. Five (31%) patients had a postoperative complication (four Clavien grade I, one Clavien grade II). There were no delayed complications, positive surgical margins, or tumor recurrences. Mean postoperative eGFR change within 3 months was -9.4%. These results show that complete renal transposition can be safely used to facilitate excision of upper pole tumors.

Angiogenesis inhibitor therapies for metastatic renal cell carcinoma: effectiveness, safety and treatment patterns in clinical practice-based on medical chart review.

OBJECTIVE: To assess the effectiveness, safety, and treatment patterns of anti-angiogenic agents in metastatic renal cell carcinoma (mRCC) in tertiary clinical practice settings. PATIENTS AND METHODS: We retrospectively reviewed the medical records in two tertiary oncology centres in the USA for all patients treated while off clinical trials from April 2003 to June 2008 who met the entry criteria and received one or more prescriptions for sunitinib or sorafenib, or one or more intravenous administrations of bevacizumab (off-label) as first-line anti-angiogenic treatment. The objective response rate (ORR) reviewed by independent physicians, adverse events (AEs), and treatment modifications were assessed. RESULTS: Among 144 patients receiving sunitinib (57), sorafenib (62) and bevacizumab (25), the median treatment duration was 10.5, 8.1 and 7.9 months, and the ORR was 37%, 9% and 13%, respectively. The ORR was lower for patients with metastases to bone, brain, lungs or lymph nodes. Common AEs (all grades) for sunitinib were fatigue (53%), diarrhoea (37%); for sorafenib, diarrhoea (50%), fatigue (40%); for bevacizumab, fatigue (40%), nausea (24%). In all, 34 (60%), 51 (82%) and 20 (80%) patients receiving sunitinib, sorafenib and bevacizumab, respectively, discontinued treatment; 10 (18%), 11 (18%) and four (16%) discontinued due to AEs; 21%, 40% and 12% had a dose interruption, and 30%, 35% and 0% had a dose reduction. CONCLUSIONS: Currently available anti-angiogenic agents had considerable effectiveness in clinical practice. However, the response rates appeared to be low in certain subgroups, but sample sizes were small. Patients had significant rates of AEs, many of which led to treatment modifications. The findings from this retrospective study suggest that there is a need for better-tolerated therapies for mRCC.