[Adrenalectomy for primary hyperaldosteronism : retrospective review of 57 patients in CHU of Liege]. / Surrénalectomie pour hyperaldostéronisme primaire : revue rétrospective de 57 cas au CHU de Liège.

Primary hyperaldosteronism is the most common cause of secondary hypertension. Diagnostic clarification is essential because surgery is the treatment of choice for patients with unilateral disease (aldosterone-producing adenoma and unilateral cortical hyperplasia). We report a series of 57 patients that had adrenalectomy for primary hyperaldosteronism between April 1994 to January 2022 by the endocrine surgery team of the University Hospital of Liege. Our aim is to evaluate the diagnostic performance of adrenal venous sampling in lateralizing aldosterone hypersecretion and to compare it with other imaging techniques. The study also reviews postoperative outcomes in terms of blood pressure values, kalemia and antihypertensive medications.

L'hyperaldostéronisme primaire est la cause la plus fréquente d'hypertension artérielle secondaire. La mise au point diagnostique est essentielle, car la chirurgie est le traitement de choix pour les patients souffrant d'une forme unilatérale de la maladie (adénome de Conn et hyperplasie corticale unilatérale). Nous rapportons une série de 57 patients opérés de surrénalectomie pour hyper-aldostéronisme primaire, d'avril 1994 à janvier 2022, par l'équipe de chirurgie endocrinienne du CHU de Liège. Notre objectif est d'évaluer la performance diagnostique du cathétérisme veineux surrénalien à latéraliser l'hypersécrétion d'aldostérone et de la comparer aux autres techniques d'imagerie. L'étude porte également sur les résultats post-opératoires en termes de valeurs de pression artérielle, de kaliémie et de réduction du traitement médicamenteux antihypertenseur.

Tumor cells may circulate in medullary thyroid cancer patients independently of serum calcitonin.

Early detection of tumor relapse is a major issue in patients with medullary thyroid carcinoma. Calcitonin has been reported as a sensitive and accurate marker for recurrence of medullary thyroid carcinoma after thyroidectomy. Recent evidence nevertheless reveals pitfalls in calcitonin immunoassays due to the presence of heterophilic antibodies or macroaggregates. Calcitonin can also remain undetectable despite metastasis of rare tumor cells in thyroidectomized patients. In this context, we designed a sensitive and specific technique to identify calcitonin-positive circulating tumor cells (CTC) in medullary thyroid carcinoma. We demonstrate that calcitonin-positive CTCs are present in the peripheral blood of medullary carcinoma patients following complete thyroidectomy. Unexpectedly, the presence of CTCs could be identified up to 12 years after surgery even in the absence of detectable levels of serum calcitonin.

A case of added value of 123I-mIBG SPECT/CT imaging in the diagnosis of a pheochromocytoma extending into the left adrenal vein.

We present the case of a 48-year-old patient with a left adrenal incidentaloma found on computed tomography (CT) for which the diagnosis of pheochromocytoma was confirmed by a 24-hour urinary dosage of norepinephrine. The 123I-mIBG scintigraphy showed a high uptake of 123I-mIBG in the left adrenal gland and, additionally, the single photon emission computed tomography combined with a low-dose CT (SPECT/CT) suggested the extension into the adrenal vein. The diagnostic CT and magnetic resonance images agreed with these findings and the subsequent surgery confirmed the vascular invasion.

The closure of arteriovenous fistula in kidney transplant recipients is associated with an acceleration of kidney function decline.

Background: The creation of arteriovenous fistula (AVF) may retard chronic kidney disease progression in the general population. Conversely, the impact of AVF closure on renal function in kidney transplant recipients (KTRs) remains unknown. Methods: From 2007 to 2013, we retrospectively categorized 285 KTRs into three groups: no AVF (Group 0, n = 90), closed AVF (Group 1, n = 114) and left-open AVF (Group 2, n = 81). AVF closure occurred at 653 ± 441 days after kidney transplantation (KTx), with a thrombosis:ligation ratio of 19:95. Estimated glomerular filtration rate (eGFR) was determined using the Modification of Diet in Renal Disease equation. Linear mixed models calculated the slope and intercept of eGFR decline versus time, starting at 3 months post-KTx, with a median follow-up of 1807 days (95% confidence interval 1665-2028). Results: The eGFR slope was less in Group 1 (-0.081 mL/min/month) compared with Group 0 (-0.183 mL/min/month; P = 0.03) or Group 2 (-0.164 mL/min/month; P = 0.09). Still, the eGFR slope significantly deteriorated after (-0.159 mL/min/month) versus before (0.038 mL/min/month) AVF closure (P = 0.03). Study periods before versus after AVF closure were balanced to a mean of 13.5 and 12.5 months, respectively, with at least 10 observations per patient ( n = 99). Conclusions: In conclusion, a significant acceleration of eGFR decline is observed over the 12 months following the closure of a functioning AVF in KTRs.

Ectopic hormone-secreting pheochromocytoma: a francophone observational study.

BACKGROUND: Ectopic hormone-secreting pheochromocytomas are rare; only case reports exist in the literature. This condition has been linked with increased malignancy, familial syndromes, and ACTH secretion. We wanted to test these hypotheses and shed light on the nature of ectopic hormone-secreting pheochromocytomas. METHODS: This is a multicenter (francophone) observational study. Inclusion was based upon abnormal preoperative hormone tests in patients with pheochromocytoma that normalized after removal of the tumor. Where possible, immunohistochemistry was performed to confirm that ectopic secretion came from the tumor. RESULTS: Sixteen cases were found: nine female and seven male patients. Median age was 50.5 (range 31-89) years. Most presented with hypertension, diabetes, or cushingoid features. Ten patients had specific symptoms from the ectopic hormone secretion. Two had a familial syndrome. Of eight patients with excess cortisol secretion, three died as a result of the tumor resection: two had pheochromocytomas >15 cm and their associated cortisol hypersecretion complicated their postoperative course. The other died from a torn subhepatic vein. The 13 survivors did not develop any evidence of malignancy during follow-up (median 50 months). Symptoms from the ectopic secretion resolved after removal of the tumor. Immunohistochemistry was performed and was positive in eight tumors: five ACTH, three calcitonins, and one VIP. CONCLUSIONS: Most pheochromocytomas with ectopic secretion are neither malignant nor familial. Most ectopic hormone-secreting pheochromocytoma cause hypercortisolemia. Patients with a pheochromocytoma should be worked up for ectopic hormones, because removal of the pheochromocytoma resolves those symptoms. Associated cortisol secretion needs careful attention.

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

OBJECTIVE: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CASR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CASR function. PATIENTS AND METHODS: A 16-year-old patient had mild hypercalcemia associated with low-normal urinary calcium excretion and normal-to-high parathyroid hormone (PTH) levels. Because of negative family history, familial hypocalciuric hypercalcemia was originally excluded. The second patient was a 54-year-old man with symptomatic hypocalcemia, hyperphosphatemia, low PTH, and mild hypercalciuria. Familial investigation revealed the same phenotype in the patient's sister. The coding region of the CASR gene was sequenced in both probands and their available first-degree relatives. RESULTS: The first patient had a novel heterozygous inactivating CASR mutation in exon 4, which predicted a p.A423K change; genetic analysis was negative in the parents. The second patient had a novel heterozygous activating CASR mutation in exon 6, which predicted a p.E556K change; the affected sister of the proband was also positive. CONCLUSIONS: We reported two novel heterozygous mutations of the CASR gene, an inactivating mutation in exon 4 and the first activating mutation reported to date in exon 6. These cases illustrate the importance of genetic testing of CASR gene to aid correct diagnosis and to assist in clinical management.

Adrenal ganglioneuroma.

BACKGROUND: A 20-year-old man was referred after having been discovered a left adrenal incidentaloma. Characteristics on magnetic resonance imaging (MRI) suggested the diagnosis of adrenal ganglioneuroma or carcinoma. Pathological examination after adrenalectomy concluded it was an adrenal ganglioneuroma. We studied the characteristics of adrenal ganglioneuroma. METHODS: We retrospectively reviewed hormonal status, computed tomography and MRI features, and histological findings of our series of 8 adrenal ganglioneuromas. RESULTS: Specific features were: (1) no hormonal hypersecretion; (2) presence of calcifications, no vessel involvement; and a non-enhanced attenuation of less than 40 Hounsfield units on computed tomography; and (3) low non-enhanced T1-weighted signal, a slightly high and heterogeneous T2-weighted signal, and a late and gradual enhancement on dynamic MRI, especially if associated with a whorled pattern. CONCLUSIONS: Even if many aggressive tumors share some of those radiological features, the presence of all or most of them must lead the clinician to consider the diagnosis of adrenal ganglioneuroma.

Carcinoid tumor of the appendix: a consecutive series from 1237 appendectomies.

AIM: To report the experience of the CHU Sart Tilman, University of Liege, Belgium, in the management of appendiceal carinoid tumor. METHODS: A retrospective review of 1237 appendectomies performed in one single centre from January 2000 to May 2004, was undertaken. Analysis of demographic data, clinical presentation, histopathology, operative reports and outcome was presented. RESULTS: Among the 1237 appendectomies, 5 appendiceal carcinoid tumors were identified (0.4%) in 4 male and 1 female patients, with a mean age of 29.2 years (range: 6-82 years). Acute appendicitis was the clinical presentation for all patients. Four patients underwent open appendectomy and one a laparoscopic procedure. One patient was reoperated to complete the excision of mesoappendix. All tumors were located at the tip of the appendix with a mean diameter of 0.6 cm (range: 0.3-1.0 cm). No adjuvant therapy was performed. All patients were alive and disease-free during a mean follow-up of 33 mo. CONCLUSION: Appendiceal carcinoid tumor most often presents as appendicitis. In most cases, it is found incidentally during appendectomies and its diagnosis is rarely suspected before histological examination. Appendiceal carcinoid tumor can be managed by simple appendectomy and resection of the mesoappendix, if its size is

Pylephlebitis of the portal vein complicating intragastric migration of an adjustable gastric band.

Pylephlebitis, or septic thrombophlebitis of the portal vein, is an infrequent but life-threatening complication of abdominal septic events. The authors report the occurrence of pylephlebitis and multiple liver abscesses induced by a neglected intra-gastric migration of an adjustable silicone gastric band. The patient was successfully treated by broad-spectrum antibiotics and total gastrectomy with Roux-en-Y esophago-jejunostomy. Postoperative recovery was marked by acute liver failure that was managed conservatively. The patient is alive and well at 1-year follow-up. This case emphasizes the interest in early removal of the band when intra-gastric migration is diagnosed.

Thyrotoxic adenoma followed by atypical hyperthyroidism due to struma ovarii: clinical and genetic studies.

OBJECTIVE: Atypical forms of hyperthyroidism represent a diagnostic challenge for clinicians. Struma ovarii is an ovarian teratoma and constitutes a rare cause of ectopic thyroidal hormonal production. We describe a case of struma ovarii that combined two different sources of hyperthyroidism in the same patient and report genetic studies in order to contribute a better understanding of the autonomy and tumorigenesis of the struma ovarii. CASE REPORT: A 73-year-old nulliparous woman presented a thyroid toxic adenoma that was successfully treated with 10 mCi radioiodine. Unexpectedly, a new onset of hyperthyroidism prompted us to look for a second etiology. A whole-body scan with (123)I detected a pelvic hyperfixation suggesting struma ovarii, and a thyroid differentiated left ovarian teratoma 3 cm in size was surgically removed. We screened for mutations of thyroid-stimulating hormone receptor and Gs-alpha protein genes, as these mutations are common in thyroid adenomas. We did not identify any mutations. Androgen receptor study demonstrated a monoclonal status. Comparative genomic hybridization did not reveal any chromosomal abnormality. However, loss of heterozygosity analysis showed several structural abnormalities, compared with the majority of benign ovarian teratomas, which show a normal karyotype. CONCLUSIONS: This is the first well-documented report of thyrotoxic struma ovarii revealed after treatment of a single thyroid toxic adenoma. We have shown in this case that struma ovarii originates from a single germ cell, and, albeit benign, this tumor presents several chromosomal abnormalities. Struma ovarii-induced hyperthyroidism is likely to be mediated by mechanisms different from those of the classical thyroid toxic adenoma.

Tolerance of liver transplant patients to strenuous physical activity in high-altitude.

Physical functioning is improved after liver transplantation but studies comparing liver transplant recipients with normal healthy people are lacking. How liver (and other organ) transplant recipients tolerate strenuous physical activities is unknown. There are no data on the tolerance of transplant patients at high altitude. Six liver transplant subjects were selected to participate in a trek up Mount Kilimanjaro 5895 m, Tanzania. Physical performance and susceptibility to acute mountain sickness were prospectively compared with fifteen control subjects with similar profiles and matched for age and body mass index. The Borg-scale (a rating of perceived exertion) and cardiopulmonary parameters at rest were prospectively compared with six control subjects also matched for gender and VO2max. Immunosuppression in transplant subjects was based on tacrolimus. No difference was seen in physical performance, Borg-scales and acute mountain sickness scores between transplant and control subjects. Eight-three percent of transplant subjects and 84.6% of control subjects reached the summit (p=0.7). Oxygen saturation decreased whereas arterial blood pressure and heart rate increased with altitude in both groups. The only difference was the development of arterial hypertension in transplant subjects at 3950 m (p=0.036). Selected and well-prepared liver transplant recipients can perform strenuous physical activities and tolerate exposure to high altitude similar to normal healthy people.