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Open access

Shunsuke Shimazaki, Itsuro Kazukawa, Kyoko Mori, Makiko Kihara, and Masanori Minagawa

Summary

Ammonium acid urate (AAU) crystals are rare in industrialized countries. Furthermore, the number of children with diabetic ketoacidosis (DKA) who develop severe acute kidney injury (AKI) after hospitalization is small. We encountered two patients with AKI caused by AAU crystals during the recovery phase of DKA upon admission. They were diagnosed with severe DKA and hyperuricemia. Their urine volume decreased and AKI developed several days after hospitalization; however, acidosis improved in both patients. Urine sediment analysis revealed AAU crystals. They were treated with urine alkalization and diuretics. Excretion of ammonia in the urine and urine pH levels increased after treatment of DKA, which resulted in the formation of AAU crystals. In patients with severe DKA, the urine and urine sediment should be carefully examined as AAU can form in the recovery phase of DKA.

Learning points

Open access

Shuhei Baba, Arina Miyoshi, Shinji Obara, Hiroaki Usubuchi, Satoshi Terae, Masao Sunahara, Takahiro Oshima, Kazuhito Misawa, Takahiro Tsuji, Bunya Takahashi, Yuto Yamazaki, Hironobu Sasano, and Norio Wada

Summary

A 31-year-old man with Williams syndrome (WS) was referred to our hospital because of a 9-year history of hypertension, hypokalemia, and high plasma aldosterone concentration to renin activity ratio. A diagnosis of primary aldosteronism (PA) was clinically confirmed but an abdominal CT scan showed no abnormal findings in his adrenal glands. However, a 13-mm hypervascular tumor in the posterosuperior segment of the right hepatic lobe was detected. Adrenal venous sampling (AVS) subsequently revealed the presence of an extended tributary of the right adrenal vein to the liver surrounding the tumor. Segmental AVS further demonstrated a high plasma aldosterone concentration (PAC) in the right superior tributary vein draining the tumor. Laparoscopic partial hepatectomy was performed. The resected tumor histologically separated from the liver was composed of clear cells, immunohistochemically positive for aldesterone synthase (CYP11B2), and subsequently diagnosed as aldosterone-producing adrenal adenoma. After surgery, his blood pressure, serum potassium level, plasma renin activity and PAC were normalized. To the best of our knowledge, this is the first report of WS associated with PA. WS harbors a high prevalence of hypertension and therefore PA should be considered when managing the patients with WS and hypertension. In this case, the CT findings alone could not differentiate the adrenal rest tumor. Our case, therefore, highlights the usefulness of segmental AVS to distinguish adrenal tumors from hepatic adrenal rest tumors.

Learning points:

  • Williams syndrome (WS) is a rare genetic disorder, characterized by a constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension.
  • WS is a disease with a high frequency of hypertension but the renin-aldosterone system in WS cases has not been studied at all.
  • If a patient with WS had hypertension and severe hypokalemia, low PRA and high ARR, the coexistence of primary aldosteronism (PA) should be considered.
  • Adrenal rest tumors are thought to arise from aberrant adrenal tissues and are a rare cause of PA.
  • Hepatic adrenal rest tumor (HART) should be considered in the differential diagnosis when detecting a mass in the right hepatic lobe.
  • Segmental adrenal venous sampling could contribute to distinguish adrenal tumors from HART.
Open access

Yuki Fujita, Daisuke Tanaka, Hisato Tatsuoka, Miho Matsubara, Takanori Hyo, Yoshiyuki Hamamoto, Toshiyuki Komiya, Nobuya Inagaki, Yutaka Seino, and Yuji Yamazaki

Summary

Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes mellitus characterised by early onset and dominant inheritance. Delayed diagnosis or misdiagnosis as type 1 or type 2 diabetes mellitus is common. Definitive genetic diagnosis is essential for appropriate treatment of patients with MODY. The hepatocyte nuclear factor 1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5), which has distinctive clinical features including renal disease. MODY5 should always be considered by clinicians in patients with early onset diabetes and renal anomalies. We report a case of a 30-year-old Japanese male with early-onset diabetes mellitus, renal anomalies and family history of diabetes that was suggestive of MODY5. Renal histology showed no evidence of diabetic nephropathy. Genetic testing revealed a novel heterozygous splice-site mutation of the HNF1B gene in the family members. It was strongly suggested that the mutation could underlie our patient’s MODY5.

Learning points:

  • Genetic diagnosis of MODY is relevant for appropriate treatment.
  • Dominantly inherited early-onset diabetes mellitus with renal cysts suggests MODY5.
  • Scanning the non-coding regions is important for not missing a mutation in HNF1B.
Open access

Mitsuhiro Kometani, Takashi Yoneda, Yuji Maeda, Masashi Oe, Yoshimichi Takeda, Takuya Higashitani, Daisuke Aono, Asuka Yoshino, Shigehiro Karashima, and Yoshiyu Takeda

Summary

Pheochromocytoma crisis results from the sudden release of large quantities of catecholamines and leads to progressive multiple organ dysfunction. Here we report a case of pheochromocytoma crisis with symptoms associated with acute coronary syndrome (ACS) and severe fluctuations in blood pressure (BP). A 43-year-old Japanese man with hypertension (240/120 mmHg) visited a general hospital for chest pain. Echocardiogram showed ST segment depression and blood test demonstrated elevated troponin T. However, emergent coronary angiography revealed normal findings. CT showed a large adrenal mass on the left side, which was suspected as the cause of chest pain and BP elevation. After the patient was transported to our hospital, his BP was found to oscillate between 70 and 240 mmHg, and level of consciousness was decreased. After hospitalization, he had a further decrease in consciousness, a rise in body temperature, and a gradual increase in the interval between the upper and lower systolic BP. His systolic BP varied between 30 mmHg and 300 mmHg at the intervals of 20-30 min. After a multimodality therapy, including α-blocker and high dose fluid replacement, the fluctuation in his BP was gradually decreased and got stabilized after approximately 24 h. Approximately 3 weeks later, he underwent left adrenalectomy. This case showed that pheochromocytoma with internal necrosis might be misdiagnosed as ACS. Furthermore, in cases with a large adrenal tumor and severe elevation or fluctuations of BP, pheochromocytoma should be suspected and treated with α-blockers and fluid replacements as soon as possible prior to surgery.

Learning points:

  • High catecholamine levels due to pheochromocytoma crisis might cause symptoms associated with acute coronary syndrome.
  • Adrenal tumor with internal necrosis and the elevation or fluctuations of blood pressure should be suspected to be pheochromocytoma.
  • If pheochromocytoma crisis is suspected, the specialist, such as an endocrinologist or a urologist, should intervene, and an α-blocker treatment with adequate fluid replacement therapy should be initiated as soon as possible.
  • Pheochromocytoma multisystem crisis (PMC) is a fatal condition characterized by multiple organ failure, severe blood pressure variability, high fever, and encephalopathy. This is an extremely rare subtype of a very rare disease such as pheochromocytoma. However, because the fatality rate of PMC is high, clinicians should be aware of the symptoms that mark its onset.
Open access

Tomomi Nakao, Ken Takeshima, Hiroyuki Ariyasu, Chiaki Kurimoto, Shinsuke Uraki, Shuhei Morita, Yasushi Furukawa, Hiroshi Iwakura, and Takashi Akamizu

Summary

Thyroid storm (TS) is a life-threatening condition that may suffer thyrotoxic patients. Therapeutic plasma exchange (TPE) is a rescue approach for TS with acute hepatic failure, but it should be initiated with careful considerations. We present a 55-year-old male patient with untreated Graves’ disease who developed TS. Severe hyperthyroidism and refractory atrial fibrillation with congestive heart failure aggregated to multiple organ failure. The patient was recovered by intensive multimodal therapy, but we had difficulty in introducing TPE treatment considering the risk of exacerbation of congestive heart failure due to plasma volume overload. In addition, serum total bilirubin level was not elevated in the early phase to the level of indication for TPE. The clinical course of this patient instructed delayed elevation of bilirubin until the level of indication for TPE in some patients and also demonstrated the risk of exacerbation of congestive heart failure by TPE.

Learning points:

  • Our patient with thyroid storm could be diagnosed and treated promptly using Japan Thyroid Association guidelines for thyroid storm.
  • Delayed elevation of serum bilirubin levels could make the decision of introducing therapeutic plasma exchange difficult in cases of thyroid storm with acute hepatic failure.
  • The risk of worsening congestive heart failure should be considered carefully when performing therapeutic plasma exchange.
Open access

Takuya Higashitani, Shigehiro Karashima, Daisuke Aono, Seigoh Konishi, Mitsuhiro Kometani, Rie Oka, Masashi Demura, Kenji Furukawa, Yuto Yamazaki, Hironobu Sasano, Takashi Yoneda, and Yoshiyu Takeda

Summary

Renovascular hypertension (RVHT) is an important and potentially treatable form of resistant hypertension. Hypercortisolemia could also cause hypertension and diabetes mellitus. We experienced a case wherein adrenalectomy markedly improved blood pressure and plasma glucose levels in a patient with RVHT and low-level autonomous cortisol secretion. A 62-year-old Japanese man had been treated for hypertension and diabetes mellitus for 10 years. He was hospitalized because of a disturbance in consciousness. His blood pressure (BP) was 236/118 mmHg, pulse rate was 132 beats/min, and plasma glucose level was 712 mg/dL. Abdominal CT scanning revealed the presence of bilateral adrenal masses and left atrophic kidney. Abdominal magnetic resonance angiography demonstrated marked stenosis of the left main renal artery. The patient was subsequently diagnosed with atherosclerotic RVHT with left renal artery stenosis. His left adrenal lobular mass was over 40 mm and it was clinically suspected the potential for cortisol overproduction. Therefore, laparoscopic left nephrectomy and adrenalectomy were simultaneously performed, resulting in improved BP and glucose levels. Pathological studies revealed the presence of multiple cortisol-producing adrenal nodules and aldosterone-producing cell clusters in the adjacent left adrenal cortex. In the present case, the activated renin-angiotensin-aldosterone system and cortisol overproduction resulted in severe hypertension, which was managed with simultaneous unilateral nephrectomy and adrenalectomy.

Learning points:

  • Concomitant activation of the renin-angiotensin-aldosterone system and cortisol overproduction may contribute to the development of severe hypertension and lead to lethal cardiovascular complications.
  • Treatment with simultaneous unilateral nephrectomy and adrenalectomy markedly improves BP and blood glucose levels.
  • CYP11B2 immunohistochemistry staining revealed the existence of aldosterone-producing cell clusters (APCCs) in the adjacent non-nodular adrenal gland, suggesting that APCCs may contribute to aldosterone overproduction in patients with RVHT.
Open access

Fumiaki Kawano, Tadato Yonekawa, Hideki Yamaguchi, Nobuhiro Shibata, Kousei Tashiro, Makoto Ikenoue, Shun Munakata, Kazuhiro Higuchi, Hiroyuki Tanaka, Yuichiro Sato, Ayumu Hosokawa, Shinsuke Takeno, Kunihide Nakamura, and Atsushi Nanashima

Summary

A 54-year-old woman was referred to our hospital with a cervical tumor. CT revealed a cervical tumor extending to the upper mediastinum, tracheal deviation and tumor infiltration in the cervical vessels. She was followed-up because no diagnosis of malignancy was made by cytology. However, 2 months later, a CT scan showed enlargement of the tumor and tracheal stenosis, and a surgical biopsy was performed and she was diagnosed with anaplastic thyroid cancer (ATC). The tracheal tube with tracheal stenosis could not be removed due to the rapid growth of the tumor, necessitating management by mechanical ventilation. Due to the difficulty of surgical resection, she was treated with lenvatinib. A lenvatinib solution was made and administered via a nasogastric tube. After lenvatinib treatment, the tumor volume decreased and the tracheal stenosis improved. The tracheal tube was removed and oral intake became possible. She was discharged and received ambulatory lenvatinib therapy. The tumor was significantly reduced in size, but gradually grew and was exposed through the cervical wound 6 months later. Esophageal perforation occurred 10 months after the start of treatment. Lenvatinib was re-administered via a nasogastric tube. Eleven months later, the patient died of massive bleeding from the exposed cervical tumor. Patients with advanced ATC may require management with mechanical ventilation for airway stenosis or with a nasogastric tube for esophageal stenosis and perforation. We experienced a case in which lenvatinib was safely administered via a nasogastric tube while performing mechanical ventilation.

Learning points:

  • An anaplastic thyroid cancer patient under mechanical ventilator management was treated with lenvatinib via a nasogastric tube.
  • The lenvatinib solution can easily be prepared and administered via a nasogastric tube.
  • The lenvatinib solution was effective for a patient with difficulty in oral intake.
  • Lenvatinib could also improve the prognosis of an anaplastic thyroid cancer patient with severe airway and esophageal trouble.
Open access

Daramjav Narantsatsral, Takagi Junko, Iwayama Hideyuki, Inukai Daisuke, Takama Hiroyuki, Nomura Yuka, Hirase Syo, Morita Hiroyuki, Otake Kazuo, Ogawa Tetsuya, and Takami Akiyoshi

Summary

Dupilumab an inhibitor of the interleukin (IL)-4R-alpha subunit is used for the treatment of allergic diseases. The patient was a 49-year-old man who received dupilumab for the treatment of severe atopic dermatitis. He presented hyperthyroidism with elevated thyroglobulin and anti-thyroid antibody negativity at 4 months after the initiation of therapy. On scintigraphy, the thyroid radioiodine uptake was low. Ultrasonography showed a diffuse hypoechoic area in the thyroid gland. A pathological study revealed lymphocytic infiltration. The administration of dupilumab was continued because of his atopic dermatitis that showed an excellent response. The patient`s hyperthyroidism changed to hypothyroidism 3 weeks later. Six months later his thyroid function normalized without any treatment. We herein describe the case of a patient with atopic dermatitis who developed painless thyroiditis under treatment with dupilumab. To the best of our knowledge, this is the first report of this event in the literature.

Learning points:

  • Dupilumab, a fully human monoclonal antibody that blocks interleukin-4 and interleukin-13, has been shown to be effective in the treatment atopic dermatitis and asthma with eosinophilia.
  • Painless thyroiditis is characterized by transient hyperthyroidism and hypothyroidism and recovery without anti-thyroid treatment.
  • This is the first report of painless thyroiditis as an adverse effect of dupilumab, although conjunctivitis and nasopharyngitis are the main adverse effects of dupilumab.
Open access

Raku Son, Masahiko Nagahama, Fumiaki Tanemoto, Yugo Ito, Fumika Taki, Ryosuke Tsugitomi, and Masaaki Nakayama

Summary

The etiology of hyponatremia is assessed based on urine osmolality and sodium. We herein describe a 35-year-old Asian man with pulmonary tuberculosis and perforated duodenal ulcer who presented with hyponatremia with hourly fluctuating urine osmolality ranging from 100 to 600 mosmol/kg, which resembled urine osmolality observed in typical polydipsia and SIADH simultaneously. Further review revealed correlation of body temperature and urine osmolality. Since fever is a known non-osmotic stimulus of ADH secretion, we theorized that hyponatremia in this patient was due to transient ADH secretion due to fever. In our case, empiric exogenous glucocorticoid suppressed transient non-osmotic ADH secretion and urine osmolality showed highly variable concentrations. Transient ADH secretion-related hyponatremia may be underrecognized due to occasional empiric glucocorticoid administration in patients with critical illnesses. Repeatedly monitoring of urine chemistries and interpretation of urine chemistries with careful review of non-osmotic stimuli of ADH including fever is crucial in recognition of this etiology.

Learning points:

  • Hourly fluctuations in urine osmolality can be observed in patients with fever, which is a non-osmotic stimulant of ADH secretion.
  • Repeated monitoring of urine chemistries aids in the diagnosis of the etiology underlying hyponatremia, including fever, in patients with transient ADH secretion.
  • Glucocorticoid administration suppresses ADH secretion and improves hyponatremia even in the absence of adrenal insufficiency; the etiology of hyponatremia should be determined carefully in these patients.
Open access

Kazuhisa Kusuki, Saya Suzuki, and Yuzo Mizuno

Summary

A 72-year-old man with no history of diabetes was referred to our department due to hyperglycemia during pembrolizumab treatment for non-small-cell lung carcinoma. His blood glucose level was 209 mg/dL, but he was not in a state of ketosis or ketoacidosis. Serum C-peptide levels persisted at first, but gradually decreased, and 18 days later, he was admitted to our hospital with diabetic ketoacidosis (DKA). The patient was diagnosed with fulminant type 1 diabetes (FT1D) induced by pembrolizumab. According to the literature, the insulin secretion capacity of a patient with type 1 diabetes (T1D) induced by anti-programmed cell death-1 (anti-PD-1) antibody is depleted in approximately 2 to 3 weeks, which is longer than that of typical FT1D. Patients with hyperglycemia and C-peptide persistence should be considered for hospitalization or frequent outpatient visits with insulin treatment because these could indicate the onset of life-threatening FT1D induced by anti-PD-1 antibodies. Based on the clinical course of this patient and the literature, we suggest monitoring anti-PD-1 antibody-related T1D.

Learning points:

  • Immune checkpoint inhibitors, such as anti-PD-1 antibodies, are increasingly used as anticancer drugs. Anti-PD-1 antibodies can cause immune-related adverse events, including T1D.
  • FT1D, a novel subtype of T1D, is characterized by the abrupt onset of hyperglycemia with ketoacidosis, a relatively low glycated hemoglobin level and depletion of C-peptide level at onset.
  • In patients being treated with anti-PD-1 antibody, hyperglycemia with C-peptide level persistence should be monitored through regular blood tests. Because of C-peptide persistence and mild hyperglycemia, it is possible to miss a diagnosis of life-threatening FT1D induced by anti-PD-1 antibody.
  • In particular, in patients who have no history of diabetes, hyperglycemia without DKA is likely to be the very beginning of anti-PD-1 antibody-induced T1D. Therefore, such patients must be considered for either hospitalization or frequent outpatient visits with insulin injections and self-monitoring of blood glucose.