scholarly journals The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman’s and Bartter’s Syndromes

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2960
Author(s):  
Francesco Francini ◽  
Laura Gobbi ◽  
Verdiana Ravarotto ◽  
Silvia Toniazzo ◽  
Federico Nalesso ◽  
...  

Gitelman’s (GS) and Bartter’s (BS) syndromes are rare, inherited autosomal recessive tubulopathies characterized by hypokalemia, metabolic alkalosis, renal sodium, chloride, and potassium and magnesium-wasting. While the treatment based on potassium, sodium, chloride, and magnesium supplementation in addition to other pharmacologic options are widely established, recommendations about the dietary approach to GS and BS still remain generic. In this review we focus on the dietary strategies to increase sodium, potassium, and magnesium intake in GS and BS patients. Potassium and magnesium-rich foods and supplements are considered together with those that may reduce through different mechanisms the potassium and magnesium plasma level. Magnesium supplementation is often poorly tolerated, causing abdominal pain and diarrhea in most patients. New formulations using liposome and, in particular, sucrosomial technology have been recently proposed for magnesium supplementation in order to increase magnesium supplement tolerability and intestinal absorption. The dietary approach to GS and BS may be very important in the therapeutic approach to these syndromes. Due to the relevance of the dietary approach to these syndromes, a nutritional counseling should always be recommended and the nutritionist should join nephrologists in the follow-up of GS and BS patient care.

2019 ◽  
Author(s):  
Anna Angelousi ◽  
Eva Kassi ◽  
Melpomeni Peppa ◽  
Alexandra Chrysoulidou ◽  
George Zografos ◽  
...  

2013 ◽  
Vol 13 (2) ◽  
pp. 79-80
Author(s):  
Zane Simtniece ◽  
Gatis Kirsakmens ◽  
Ilze Strumfa ◽  
Andrejs Vanags ◽  
Maris Pavars ◽  
...  

Abstract Here, we report surgical treatment of a patient presenting with pancreatic metastasis (MTS) of renal clear cell carcinoma (RCC) 11 years after nephrectomy. RCC is one of few cancers that metastasise in pancreas. Jaundice, abdominal pain or gastrointestinal bleeding can develop; however, asymptomatic MTS can be discovered by follow-up after removal of the primary tumour. The patient, 67-year-old female was radiologically diagnosed with a clinically silent mass in the pancreatic body and underwent distal pancreatic resection. The postoperative period was smooth. Four months after the surgery, there were no signs of disease progression.


PEDIATRICS ◽  
1962 ◽  
Vol 30 (6) ◽  
pp. 909-916
Author(s):  
Herbert I. Goldman ◽  
Samuel Karelitz ◽  
Hedda Acs ◽  
Eli Seifter

One hundred four healthy premature infants, of birth weight 1,000 to 1,800 gm, were fed one of five feedings: (1) human milk; (2) human milk plus 13 meq/l of sodium chloride; (3) human milk plus 13 meq/l of sodium chloride and 18 meq/l of potassium chloride; (4) a half-skimmed cows milk formula; and (5) a partially-skimmed vegetable oil, cows milk formula. The infants fed any of the three human milk formulas gained weight at a slower rate than the infants fed either of the two cows milk formulas. Infants whose diets were changed from unmodified human milk to the half-skimmed cows milk gained large amounts of weight, and at times were visibly edematous. Infants whose diets were changed from the human milks with added sodium chloride, to the half-skimmed cows milk, gained lesser amounts of weight and did not become edematous. The infants fed the two cows milk diets gained similar amounts of weight, although one diet provided 6.5 gm/kg/day, the other 3.1 gm/kg/day of protein.


2021 ◽  
Vol 14 (12) ◽  
pp. e245024
Author(s):  
Ajay Chikara ◽  
Sasidhar Reddy Karnati ◽  
Kailash Chand Kurdia ◽  
Yashwant Sakaray

A 30-year-old man presented with colicky abdominal pain for 2 months, associated with occasional episodes of bilious vomiting. He had a history of similar complaints at the age of 16 and 26 years. Contrast-enhanced computed tomography abdomen was consistent with a diagnosis of left paraduodenal hernia. On laparoscopy a 3 × 3 cm hernial defect was identified in the left paraduodenal fossa (fossa of Landzert). Contents were jejunal, and proximal ileal loops which were dilated and edematous. Anterior border of the sac was formed by the inferior mesenteric vein and left branch of the left colic artery. Initial reduction of contents was easy. However, complete reduction proved to be difficult due to adhesions with the sac opening, the hernial sac instead laid open by dividing the Inferior Mesentric Vein (IMV) (anterior border of defect) using a vascular stapler. The patient was discharged on postoperative day 3 in a stable condition. On follow-up the patient is doing well.


2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Shiao-Han Chen ◽  
Jiann-Ruey Ong ◽  
Hon-Ping Ma ◽  
Po-Shen Chen

Numerous studies suggest that in asymptomatic patients, routine follow-up CT is not indicated due to the insignificant findings found on these patients. A 53-year-old man, who denied any underlying disease before, underwent colonoscopy for routine health examination. Sudden onset of abdominal pain around left upper quarter was mentioned at our emergency department. Grade II spleen laceration was found on CT scan. Splenic injury was found few hours later on the day of colonoscopy. It might result from the extra tension between the spleen and splenic flexure which varies from different positions of patients.


Healthcare ◽  
2022 ◽  
Vol 10 (1) ◽  
pp. 150
Author(s):  
Georgios Mavraganis ◽  
Sofia Ioannou ◽  
Anastasios Kallianos ◽  
Gianna Rentziou ◽  
Georgia Trakada

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been associated with a high incidence of arterial and venous thrombotic complications. However, thromboembolic events in unusual sites such as limb and visceral arterial ischemia are reported rarely in the literature. Herein, we describe a rare case of a patient with severe coronavirus disease 2019 (COVID-19) infection who experienced severe abdominal pain during the hospitalization and presented simultaneously renal artery, splenic artery and vein as well as aortic thrombi despite prophylactic antithrombotic treatment. Information about his follow-up post discharge is also provided. This case report raises significant clinical implications regarding the correct dose of antithrombotic treatment during the acute phase of the severe COVID-19 infection and highlights the need for incessant vigilance in order to detect thrombosis at unusual sites as a possible diagnosis when severe abdominal pain is present in severe COVID-19 patients.


2009 ◽  
Vol 46 (1) ◽  
pp. 81-84 ◽  
Author(s):  
Fernanda Prata Martins ◽  
Erika Pereira de Macedo ◽  
Gustavo Andrade de Paulo ◽  
Frank Shigueo Nakao ◽  
José Celso Ardengh ◽  
...  

Bleeding from gastric varices is a life-threatening condition. We report our experience with cyanoacrylate injection. Twenty three patients with portal hypertension and gastric varices underwent intra-variceal injection of a cyanoacrylate/lipiodol solution (1:1). Study endpoint was variceal obliteration. Mean follow-up was 25.3 months. Variceal obliteration was achieved in 87% of patients. Recurrence occurred in one patient (4.3%) and rebleeding in another case (4.3%). Mild abdominal pain was described in 13% of patients. Overall mortality was 21.7% and rebleeding related mortality rate was 4.3%. Our results confirm that cyanoacrylate injection is effective and safe to eradicate gastric varices.


2020 ◽  
Author(s):  
Helena Donath ◽  
Ursula Hess ◽  
Matthias Kieslich ◽  
Marius Theis ◽  
Ute Ohlenschläger ◽  
...  

Abstract Background: Ataxia telangiectasia (A-T) is a rare autosomal-recessive multisystem disorder characterized by pronounced cerebellar ataxia, telangiectasia, cancer predisposition and altered body composition. In addition, evidence is rising for endocrine dysfunction. Objectives: To determine the evolution of diabetes and its prevalence in a larger A-T cohort. Methods: A retrospective analysis of the patient charts of 39 subjects from the Frankfurt A-T cohort was performed between August 2002 and 2018 concerning HbA1c and oral glucose tolerance (OGTT). The median follow-up period was 4 years (1-16 years). In addition, in 31 A-T patients aged 1 to 38 years HbA1c and fasting glucose were studied prospectively from 2018-2019. Results: In the retrospective analysis, we could demonstrate a longitudinal increase of HbA1c. The prospective analysis showed a significant increase of HbA1c and fasting glucose with age (r = 0.79, p <0.0001). OGTT has a good sensitivity for IR screening, whereas HbA1c can be used to evaluate individual courses and therapy response. Seven out of 39 (17.9%) patients suffered from diabetes. Metformin did not always lead to sufficient diabetes control; one patient was treated successfully with repaglinide. Conclusion: Diabetes is a common finding in older A-T patients and often starts in puberty. Our data clearly demonstrate the need for an annual diabetes screening in patients > 12 years.


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