Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Ricardo A Macau in
Google Scholar
PubMed
Search for other papers by Tiago Nunes da Silva in
Google Scholar
PubMed
Search for other papers by Joana Rego Silva in
Google Scholar
PubMed
Search for other papers by Ana Gonçalves Ferreira in
Google Scholar
PubMed
Search for other papers by Pedro Bravo in
Google Scholar
PubMed
Summary
Lithium-induced nephrogenic diabetes insipidus (Li-NDI) is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series). We describe the case of a 63-year-old woman with bipolar disorder treated with lithium and no previous history of diabetes insipidus. She was hospitalized due to a bowel obstruction and developed severe dehydration after surgery when she was water deprived. After desmopressin administration and unsuccessful thiazide and amiloride treatment, acetazolamide was administrated to control polyuria and hydroelectrolytic disorders without significant side effects. To our knowledge, this is the third publication on acetazolamide use in Li-NDI patients.
Learning points:
-
Treatment of lithium-induced nephrogenic diabetes insipidus might be challenging.
-
Vasopressin, amiloride and thiazide diuretics have been used in lithium-induced nephrogenic diabetes insipidus treatment.
-
Acetazolamide might be an option to treat lithium-induced nephrogenic diabetes insipidus patients who fail to respond to standard treatment.
-
The use of acetazolamide in lithium-induced nephrogenic diabetes insipidus must be monitored, including its effects on glomerular filtration rate.
Search for other papers by Etienne Larger in
Google Scholar
PubMed
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Nicolai J Wewer Albrechtsen in
Google Scholar
PubMed
Search for other papers by Lars H Hansen in
Google Scholar
PubMed
Search for other papers by Richard W Gelling in
Google Scholar
PubMed
Sorbonne University, UPMC, University of Paris 6, Institute of Cardiometabolism and Nutrition (ICAN), Paris, France
Search for other papers by Jacqueline Capeau in
Google Scholar
PubMed
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Carolyn F Deacon in
Google Scholar
PubMed
Search for other papers by Ole D Madsen in
Google Scholar
PubMed
Department of Education Planning and Development, Faculty of Medicine, Toho University, Tokyo, Japan
Search for other papers by Fumiatsu Yakushiji in
Google Scholar
PubMed
Search for other papers by Pierre De Meyts in
Google Scholar
PubMed
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Jens J Holst in
Google Scholar
PubMed
Search for other papers by Erica Nishimura in
Google Scholar
PubMed
Summary
Glucagon stimulates hepatic glucose production by activating specific glucagon receptors in the liver, which in turn increase hepatic glycogenolysis as well as gluconeogenesis and ureagenesis from amino acids. Conversely, glucagon secretion is regulated by concentrations of glucose and amino acids. Disruption of glucagon signaling in rodents results in grossly elevated circulating glucagon levels but no hypoglycemia. Here, we describe a patient carrying a homozygous G to A substitution in the invariant AG dinucleotide found in a 3′ mRNA splice junction of the glucagon receptor gene. Loss of the splice site acceptor consensus sequence results in the deletion of 70 nucleotides encoded by exon 9, which introduces a frame shift and an early termination signal in the receptor mRNA sequence. The mutated receptor neither bound 125I-labeled glucagon nor induced cAMP production upon stimulation with up to 1 µM glucagon. Despite the mutation, the only obvious pathophysiological trait was hyperglucagonemia, hyperaminoacidemia and massive hyperplasia of the pancreatic α-cells assessed by histology. Our case supports the notion of a hepato–pancreatic feedback system, which upon disruption leads to hyperglucagonemia and α-cell hyperplasia, as well as elevated plasma amino acid levels. Together with the glucagon-induced hypoaminoacidemia in glucagonoma patients, our case supports recent suggestions that amino acids may provide the feedback link between the liver and the pancreatic α-cells.
Learning points:
-
Loss of function of the glucagon receptor may not necessarily lead to the dysregulation of glucose homeostasis.
-
Loss of function of the glucagon receptor causes hyperaminoacidemia, hyperglucagonemia and α-cell hyperplasia and sometimes other pancreatic abnormalities.
-
A hepato–pancreatic feedback regulation of the α-cells, possibly involving amino acids, may exist in humans.
Search for other papers by Roghieh Molaei Langroudi in
Google Scholar
PubMed
Search for other papers by Fatemeh Ghazanfari Amlashi in
Google Scholar
PubMed
Search for other papers by Mohammad Hassan Hedayati Emami in
Google Scholar
PubMed
Summary
Background: Spontaneous ovarian hyperstimulation syndrome (sOHSS) can occur following hypothyroidism. Ultrasonography facilitates diagnosis and monitoring of this syndrome. We describe ovarian sonographic changes in a hypothyroid patient with sOHSS after treatment with levothyroxine (l-T4).
Case presentation: A 15-year-old girl presented with abdominal pain and distension for a few months. On examination, she had classical features of hypothyroidism. Abdominal and pelvic ultrasound revealed enlarged ovaries with multiple thin-walled cysts and mild ascitic fluid. On follow-up, abdominal ultrasound showed significant reduction of ovary size after 6 weeks of initiation of l-T4. Normal ovary size with complete regression of ovarian cysts was seen after 4 months.
Conclusion: Serial ultrasound in sOHSS associated with hypothyroidism showed regression of ovarian cysts and ovarian volume after 4 months whereas in other studies, it is reported to happen in various durations, presumably according to its etiology.
Learning points
-
OHSS can rarely occur due to hypothyroidism.
-
This type of OHSS can be simply treated by l-T4 replacement, rather than conservative management or surgery in severe cases.
-
Ultrasound follow-up shows significant regression of ovarian size and cysts within 6 weeks of initiation of l-T4.
-
Ultrasound follow-up shows normal ovarian size with complete resolution of ovarian cysts 4 months after treatment.
