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Teresa M Canteros, Valeria De Miguel, and Patricia Fainstein-Day

cortisol decreased 25%. The dose was titrated to 600 mg/day and cortisolemia decreased 55% in 1 week ( Fig. 1 ). Then the dose had to be decreased to 400 mg/day because the liver transaminases increased 3 times over the normal upper limit. The dose of

Open access

V Larouche and M Tamilia

revealed overt thyrotoxicosis (TSH: 0.06 U/L (normal: 0.40–4.59 U/L)), free T4: 48.9 pmol/L (normal: 9.0–26.0 pmol/L), elevated transaminase levels (ALT: 261 U/L (normal: 5.0–40.0 U/L)), AST: 203 U/L (normal: 15.0–55.0 U/L), an elevated C-reactive protein

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Asma Deeb, Faisal Al-Zidgali, and Bibian N Ofoegbu

. During the febrile illness, kidney function tests remained normal, liver transaminases were high with ALT of 462 IU/L (NR: < 31) and AST of 129 IU/L (NR: < 32). Total bilirubin was 95 µmol/L (NR: < 17). Her neutrophil count was low at 1.6 × 10 9 /L and

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Nicholas R Zessis, Jennifer L Nicholas, and Stephen I Stone

course was complicated by mild rhabdomyolysis secondary to her traumatic delivery. Additionally, she had a metabolic acidosis (pH 7.16/pCO 2 56/HCO 3 − 20/base excess −9), indicating poor end-organ perfusion. Transaminases were elevated, consistent

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Takashi Matsuo and Yoshihiko Ushiroda

liver, which was not visualized on the initial abdominal CT scan (day 3), was observed on day 14. There was improvement on day 24 ( Fig. 3 ). Liver transaminase levels started increasing on day 13, peaked on day 23, and decreased by day 37. Serum levels

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Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, and Stelios Tigas

elevated liver transaminases, creatine kinase (CK) and fasting insulin levels. A 75 g oral glucose tolerance test (OGTT) revealed IGT and hyperinsulinemia. At that time, further investigation including a muscle biopsy was advised but the patient was lost to

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Nobuhiro Miyamura, Shuhei Nishida, Mina Itasaka, Hirofumi Matsuda, Takeshi Ohtou, Yasuhiro Yamaguchi, Daisuke Inaba, Sadahiro Tamiya, and Tetsuo Nakano

, leading to elevated levels of transaminases, which were promptly normalized with the use of DAA ( Fig. 4B and Table 1 , 4th column, hospital day 280). DXA evaluations revealed sustained increase of BMD and bone mineral content (BMC) despite decreasing

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Sofia Pilar Ildefonso-Najarro, Esteban Alberto Plasencia-Dueñas, Cesar Joel Benites-Moya, Jose Carrion-Rojas, and Marcio Jose Concepción-Zavaleta

region (C). Investigation Biochemical and hormonal investigation ( Table 1 ) showed hypokalemia (K +  = 2.8 mEq/L), fasting glycemic level of 133 mg/dL, mildly elevated liver transaminases, elevated urinary free cortisol (2380 µg/24 h

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Yuri Tanaka, Taisuke Uchida, Hideki Yamaguchi, Yohei Kudo, Tadato Yonekawa, and Masamitsu Nakazato

jugular veins, and bilateral pretibial pitting edema. Blood tests showed extremely high levels of aspartate transaminase and alanine aminotransferase (1458 and 555 U/L, respectively), renal failure, hypoglycemia, coagulopathy, and hyperammonemia ( Table 1

Open access

Elena Carrillo, Amparo Lomas, Pedro J Pinés, and Cristina Lamas

Summary

Mutations in hepatocyte nuclear factor 1β gene (HNF1B) are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels. He also presented epididymal and seminal vesicle cysts, hypertransaminasemia, hyperuricemia and low magnesium levels. In the light of these facts we considered the possibility of a HNF1B mutation. The sequencing study of this gene confirmed a heterozygous mutation leading to a truncated and less functional protein. Genetic studies of his relatives were negative; consequently, it was classified as a de novo mutation. In particular, our patient maintained good control of his diabetes on oral antidiabetic agents for a long period of time. He eventually needed insulinization although oral therapy was continued alongside, allowing reduction of prandial insulin requirements. The real prevalence of mutations in HNF1B is probably underestimated owing to a wide phenotypical variability. As endocrinologists, we should consider this possibility in young non-obese diabetic patients with a history of chronic non-diabetic nephropathy, especially in the presence of some of the other characteristic manifestations.

Learning points:

  • HNF1B mutations are a rare cause of monogenic diabetes, often being a part of a multisystemic syndrome.
  • The combination of young-onset diabetes and genitourinary anomalies with slowly progressive nephropathy of non-diabetic origin in non-obese subjects should rise the suspicion of such occurrence. A family history may not be present.
  • Once diagnosis is made, treatment of diabetes with oral agents is worth trying, since the response can be sustained for a longer period than the one usually described. Oral treatment can help postpone insulinization and, once this is necessary, can help reduce the required doses.