Type 3 antenatal Bartter syndrome presenting with mild polyuria

2021 ◽  
Vol 14 (4) ◽  
pp. e242086
Author(s):  
Yuto Otsubo ◽  
Yuji Kano ◽  
Hiroshi Suzumura ◽  
Shigemi Yoshihara
Keyword(s):  
Metabolic Alkalosis ◽  
Neonatal Period ◽  
Male Infant ◽  
Bartter Syndrome ◽  
Compound Heterozygous ◽  
Tubular Dysfunction ◽  
Normal Range ◽  
The Mean ◽  
Sodium Loss ◽  
Type 3

Bartter syndrome (BS) is a well-recognised inherited tubular dysfunction that causes polyuria, metabolic alkalosis and hypokalaemia. Among BS cases, antenatal/neonatal BS (ABS) usually shows distinct polyhydramnios prenatally and presents features of BS in the early neonatal period. We encountered a premature infant with type 3 ABS presenting with mild polyuria and discuss the pathogenesis of mild polyuria in type 3 ABS. A male infant was born at 31 weeks’ gestation. His mother received amniocentesis because of polyhydramnios. Hyponatraemia and hypokalaemia appeared within 3 days after birth. Metabolic alkalosis, hyperreninaemia and hyperaldosteronism were also identified. Temporary polyuria developed at 1 month after birth; however, the mean urine output during hospitalisation was within the normal range. CLCNKB compound heterozygous mutations were confirmed. Polyuria of type 3 ABS may be less severe than in other types of ABS. Lower urine sodium loss may be a characteristic feature of type 3 ABS.

scholarly journals Follow-up study of macrocephalic children with enlargement of the subarachnoid space

1992 ◽  
Vol 50 (2) ◽  
pp. 156-162 ◽  
Author(s):  
J. L. D. Gherpelli ◽  
V. Scaramuzzi ◽  
M. L. G. Manreza ◽  
A.J. Diament
Keyword(s):  
Neurological Examination ◽  
Subarachnoid Space ◽  
Neonatal Period ◽  
Ventricular Dilatation ◽  
Normal Range ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
The Mean

Eighteen macrocephalic children with enlargement of the subarachnoid space (ESAS), with or without mild ventricular dilatation, were followed prospectively to a mean age of 56 months. All were born at term, with uneventful neonatal period and negative tests for congenital infections. There were 17 boys and 1 girl and the mean follow-up period was 46 months (8-58 months). The initial neurologic evaluation, between ages of 2 to 33 months, disclosed abnormalities in 2 cases. At the follow-up one was still abnormal and the other had a normal neurological examination. Another child, who had a normal neurological examination at the age of 5 months, at the age of 7 years and 7 months had an IQ of 77. Thus the abnormality rate at follow-up was 11%. The OFC returned to the normal range in 45% of the children at the follow-up period. There were no cases of intracranial hypertension. One infant had subdural taps performed at the age of 13 months that disclosed a fluid with the same characteristics as the CSF. All the children had a CT-scan performed at the beginning of the study that revealed a large subarachnoid space; in 77% it was associated with mild ventricular dilatation. Eleven had CT-scans repeated, during the study period, which showed resolution of the process in 3 cases, improvement in 2, and unchanged in 6. We conclude that enlargement of the subarachnoid space in macrocephalic children is often a benign entity. ESAS and macrocephaly will still be present in the majority of children in the long-term follow-up.

scholarly journals Bartter Syndrome in Children; A Cause of Severe Hypokalemic Metabolic Alkalosis: Clinical Case Report and Literature Review

2020 ◽  
pp. 1-7
Author(s):  
A. Radi ◽  
M. Akhrif ◽  
M. Kmari ◽  
A. Ourrai ◽  
A. Hassani ◽  
...  
Keyword(s):  
Metabolic Alkalosis ◽  
Clinical Case ◽  
Male Infant ◽  
High Plasma ◽  
Bartter Syndrome ◽  
Thick Ascending Limb ◽  
Triangular Face ◽  
Renal Tubular Disorder ◽  
Dysmorphic Syndrome ◽  
Renal Tubular

Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle. It characterized by urinary loss of sodium, potassium, and chloride; hypokalemic metabolic alkalosis; normal blood pressure, high plasma levels of renin and aldosterone. There is phenotypical and genetic variability of Bartter syndrome since were identified five genes responsible for five different forms of Bartter syndrome. The objective of this work is to report a clinical case to study the pathophysiological, clinical, biological and therapeutic features of this syndrome. Materials and Methods: We reported a case of 04-month-old male infant admitted for acute dehydration secondary to polyuro-polydipsia syndrome and vomiting. In clinical presentation the patient had a dysmorphic syndrome with triangular face, protruding ears and flattened nasal root. Laboratory tests revealed hypokalemia, hyponatremia, metabolic alkalosis and hypercalciuria. Treatment with indomethacin was started at 1 mg/kg per day with favorable outcome.

Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease

2021 ◽  
Vol 14 (7) ◽  
pp. e242954
Author(s):  
Gargi Das ◽  
Pamali Mahasweta Nanda ◽  
Anupriya Kaur ◽  
Rakesh Kumar
Keyword(s):  
Metabolic Alkalosis ◽  
Failure To Thrive ◽  
Bartter Syndrome ◽  
Chromosome 17 ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Multisystem Disorder ◽  
Organ Systems ◽  
Rare Manifestation ◽  
Renal Tubular

Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive. We report a 3-year-old girl, born to a third-degree consanguineous couple, who presented with failure to thrive and polyuria. Laboratory investigations showed metabolic alkalosis suggestive of a Bartter-like syndrome and acquired hypothyroidism. Although metabolic alkalosis is a rare manifestation of cystinosis, the presence of renal tubular dysfunction and hypothyroidism prompted consideration of a probable diagnosis of cystinosis in the index child. Slit-lamp examination revealed cystine crystals in the cornea and genetic analysis showed a mutation in exon 9 of the CTNS (cystinosin, lysosomal cystine transporter) gene on chromosome 17. We highlight the importance of considering cystinosis as a differential diagnosis for Bartter syndrome and hypothyroidism.

Immunologic Assessment of Patients Treated with Bovine Fibrin as a Hemostatic Agent

1996 ◽  
Vol 76 (06) ◽  
pp. 0925-0931 ◽  
Author(s):  
John F Carroll ◽  
Keith A Moskowitz ◽  
Niloo M Edwards ◽  
Thomas J Hickey ◽  
Eric A Rose ◽  
...  
Keyword(s):  
Coagulation Factors ◽  
Allergic Reactions ◽  
Factor V ◽  
Normal Range ◽  
Serum Samples ◽  
Human Fibrinogen ◽  
Bovine Thrombin ◽  
Thrombotic Complications ◽  
The Mean ◽  
Clinically Significant

SummaryTwenty-one cardiothoracic surgical patients have been treated with fibrin as a topical hemostatic/sealing agent, prepared from bovine fibrinogen clotted with bovine thrombin. Serum samples have been collected before treatment with fibrin and postoperatively between 1 and 9 days, 3 and 12 weeks, and 6 and 8 months. The titers of anti-bovine fibrinogen antibodies, measured by ELISA specific for immunoglobulins IgG or IgM, increased to maximal values after about 8 or 6 weeks, respectively. After 8 months, IgG titers were on average 20-fold lower than the mean maximal value, while IgM titers returned to the normal range. IgG was the predominant anti-bovine fibrinogen immunoglobulin as documented by ELISA, affinity chromatography and electrophoresis. Anti-bovine fibrinogen antibodies present in patients reacted readily with bovine fibrinogen, but did not cross-react with human fibrinogen as measured by ELISA or by immunoelectrophoresis. A significant amount of antibodies against bovine thrombin and factor V has been found, many cross-reacting with the human counterparts. No hemorrhagic or thrombotic complications, or clinically significant allergic reactions, occurred in any patient, in spite of antibody presence against some bovine and human coagulation factors. The treatment of patients with bovine fibrin, without induction of immunologic response against human fibrinogen, appeared to be an effective topical hemostatic/sealing measure.

Influence of Acute Myocardial Infarction and rt-PA Therapy on Circulating Fibrinogen

1993 ◽  
Vol 69 (04) ◽  
pp. 321-327 ◽  
Author(s):  
E Seifried ◽  
M Oethinger ◽  
P Tanswell ◽  
E Hoegee-de Nobel ◽  
W Nieuwenhuizen
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Thrombolytic Agent ◽  
Degradation Products ◽  
Maximum Plasma ◽  
Normal Range ◽  
Fibrinogen Degradation Products ◽  
Fibrin Degradation Products ◽  
Rebound Phenomenon ◽  
The Mean

SummaryIn 12 patients treated with 100 mg rt-PA/3 h for acute myocardial infarction (AMI), serial fibrinogen levels were measured with the Clauss clotting rate assay (“functional fibrinogen”) and with a new enzyme immunoassay for immunologically intact fibrinogen (“intact fibrinogen”). Levels of functional and “intact fibrinogen” were strikingly different: functional levels were higher at baseline; showed a more pronounced breakdown during rt-PA therapy; and a rebound phenomenon which was not seen for “intact fibrinogen”. The ratio of functional to “intact fibrinogen” was calculated for each individual patient and each time point. The mean ratio (n = 12) was 1.6 at baseline, 1.0 at 90 min, and increased markedly between 8 and 24 h to a maximum of 2.1 (p <0.01), indicating that functionality of circulating fibrinogen changes during AMI and subsequent thrombolytic therapy. The increased ratio of functional to “intact fibrinogen” seems to reflect a more functional fibrinogen at baseline and following rt-PA infusion. This is in keeping with data that the relative amount of fast clotting “intact HMW fibrinogen” of total fibrinogen is increased in initial phase of AMI. The data suggest that about 20% of HMW fibrinogen are converted to partly degraded fibrinogen during rt-PA infusion. The rebound phenomenon exhibited by functional fibrinogen may result from newly synthesized fibrinogen with a high proportion of HMW fibrinogen with its known higher degree of phosphorylation. Fibrinogen- and fibrin degradation products were within normal range at baseline. Upon infusion of the thrombolytic agent, maximum median levels of 5.88 μg/ml and 5.28 μg/ml, respectively, were measured at 90 min. Maximum plasma fibrinogen degradation products represented only 4% of lost “intact fibrinogen”, but they correlatedstrongly and linearly with the extent of “intact fibrinogen” degradation (r = 0.82, p <0.01). In contrast, no correlation was seen between breakdown of “intact fibrinogen” and corresponding levels of fibrin degradation products. We conclude from our data that the ratio of functional to immunologically “intact fibrinogen” may serve as an important index for functionality of fibrinogen and select patients at high risk for early reocclusion. Only a small proportion of degraded functional and “intact fibrinogen”, respectively, is recovered as fibrinogen degradation products. There seems to be a strong correlation between the degree of elevation of fibrinogen degradation products and the intensity of the systemic lytic state, i.e. fibrinogen degradation.

Kaolin-Activated Euglobulin Lysis Time (KELT)

1979 ◽  
Author(s):  
H Greig
Keyword(s):  
No Value ◽  
Clinical Assessment ◽  
Fibrinolytic Activity ◽  
Factor Xii ◽  
Plasminogen Activation ◽  
Normal Range ◽  
Control Subjects ◽  
Lysis Time ◽  
Euglobulin Lysis Time ◽  
The Mean

The most commonly used test for clinical assessment of fibrinolytic activity is the Euglobulin Lysis Time (ELT). However the normal range is very wide, the long times are inconvenient and detection of inhibition is impossible. An attempt has been made to utilise the acceleration of the ELT when kaolin is present, to devise a test with shorter times, a narrower normal range, and better precision. The Euglobulin lysis time was carried out by a modification of the method of NILSSON and OLOW, after precipitation of the euglobulin in the absence of kaolin (ELT) and in the presence of 1 mg. kaolin/ml. plasma (KELT). In 14 control subjects the mean, SD, and range for the ELT were 168.6’, 54.6’, 84-290’; the corresponding values for the KELT were 60.3’, 8.3’ and 46-74’. However, it was found that there was no correlation between the ELT value and the corresponding KELT (’r’ = -0.021); on the contrary, the longer the ELT, the greater the shortening produced by kaolin and there is a direct correlation between the ELT and the shortening of the lysis time by kaolin; ’r’ = 0.988. It is concluded that the KELT has no value as a clinical measure of fibrinolytic activity; further, the results suggest that kaolin may remove an inhibitor(s) of plasminogen activation as well as initiating Factor XII - mediated plasminogen activation.

Assessment of nutritional status of students of medical institute according to the blood biochemical parameters

2020 ◽  
pp. 55-63
Author(s):  
Rofail Rakhmanov ◽  
Elena Bogomolova ◽  
Mariya Shaposhnikova ◽  
Mariya Sapozhnikova
Keyword(s):  
Nutritional Status ◽  
Lower Boundary ◽  
Density Lipoprotein ◽  
Blood Parameters ◽  
Medical Institute ◽  
Specific Situation ◽  
Mathematical Methods ◽  
Normal Range ◽  
Mean Values ◽  
The Mean

The biochemical blood parameters characterizing the students ’nutritional status were evaluated: protein, lipid, carbohydrate metabolism, a number of minerals. The mean values, errors of the mean, median (Me), boundary (Q) and the range of 25–75 percentiles were determined. In 9.1 % of students and 28.6 % of students, the total protein was increased. Creatinine in men was in the upper normal range, in women — at the upper limit of normal, of which 46.2 % was higher than normal. The interval Q25–75 of uric acid in students is determined in the lower normal zone. In 40.0 % of men, decreased high-density lipoprotein cholesterol (Q25–75 corresponded to 1.15–1.79), in women — below normal, Q25–75 5 was 1.3–1.5, decreased in 73.3 %. Me and Q25–75 iron were in the lower normal range; 14.1 % of men and 13.2 % of women are below normal. Me sodium and potassium at the level of the lower boundary of the norm, Q25–75 in the lower zone of the norm: in 16.0 % and 15.4 % of students the levels are reduced. Calcium is slightly above the lower limit of the norm, Q25–75–2.1–2.24, indicating an insufficient intake in the whole group; 25.0 % are below normal. The border of the 25th percentile of magnesium is at the level of the lower border of the norm, in 19.2 % it is reduced. 7.2 % lack of chlorine. Phosphorus is normal, but Q25–75 is in the upper zone; 17.9 % increased. Biochemical markers can identify individuals with metabolic disorders of nutrients. Statistical indicators — the median, the boundaries of 25–75 quartiles and their scope characterize the metabolism of macronutrients and minerals in the group and subgroups of students. Laboratory and mathematical methods can provide a basis for identifying the specific causes of these changes. For this, you can use the questionnaire method of studying the nutrition of students, possibly using the developed questionnaires for a specific situation.

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis

2020 ◽  
Vol 33 (5) ◽  
pp. 665-669
Author(s):  
Aynur Küçükçongar Yavaş ◽  
Büşra Çavdarlı ◽  
Özlem Ünal Uzun ◽  
Ayşen Uncuoğlu ◽  
Mehmet Gündüz
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Intrahepatic Cholestasis ◽  
Density Lipoprotein ◽  
Etiologic Factor ◽  
Compound Heterozygous ◽  
Cholestatic Liver Disease ◽  
Biliary Cirrhosis ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Turkish Patient ◽  
Type 3

AbstractBackgroundProgressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, ABCB4 disease-causing alleles have been described in adults affected by intrahepatic cholestasis of pregnancy, hormone-induced cholestasis, low-phospholipid-associated cholelithiasis syndrome or juvenile cholelithiasis, cholangiocarcinoma and in sporadic forms of primary biliary cirrhosis. Cholestanol is a biomarker which is elevated especially in cerebrotendinous xanthomatosis and rarely in primary biliary cirrhosis (PBC) and Niemann Pick type C.Case presentationHere we report a Turkish patient with compound heterozygous mutations in the ABCB4 gene, who has hepatosplenomegaly, low level of high-density lipoprotein, cholestasis and high level of cholestanol.ConclusionThis is the first PFIC3 case with a high cholestanol level described in the literature. There are very few diseases linked to increased cholestanol levels, two of which are CTX and PBC. From this case, we can conclude that a high cholestanol level might be another indicator of PFIC type 3.

scholarly journals A Novel Compound Heterozygous Mutation in ABCB4 Gene Leading to Cholelithiasis, Progressive Familial Intrahepatic Cholestasis (Type 3), and Cirrhosis in a Child

2020 ◽  
Vol 10 (01) ◽  
pp. e134-e136
Author(s):  
Nida Mirza ◽  
Smita Malhotra ◽  
Anupam Sibal
Keyword(s):  
Intrahepatic Cholestasis ◽  
Gall Stone ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Initial Symptom ◽  
Progressive Familial Intrahepatic Cholestasis ◽  
Presenting Symptoms ◽  
Abcb4 Gene ◽  
Type 3

AbstractProgressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.

Experimental Study on Hydraulic Roughness of Submerged Grass in Ecological Riverbank

2013 ◽  
Vol 838-841 ◽  
pp. 1743-1748
Author(s):  
Dian Guang Ma ◽  
Chun Xin Zhong ◽  
Wu Ning ◽  
Qing Ye ◽  
Sheng Zhu
Keyword(s):  
Flow Velocity ◽  
Roughness Coefficient ◽  
Theoretic Analysis ◽  
Mean Flow ◽  
Normal Range ◽  
Obvious Effect ◽  
Hydraulic Roughness ◽  
Natural Turf ◽  
Scouring Process ◽  
The Mean

A model experiment about the hydraulic roughness of natural turf used in riverbank was carried out in flume. To examine the rationality of experimental design, the hydraulic roughness coefficient of plexiglass-flume was tested firstly. The result was 0.0085, which is quite normal. Then the tested hydraulic roughness caused by vegetation ranges from 0.020 to 0.090 for the chosen plants, which is also acceptable. Furthermore, the tested incipient velocities of krasnozem, and paddysoil had the range of 0.55~0.65m·s-1 and 1.0~1.1m·s-1, respectively. All these experimental results are in normal range, which means that the design of this experimental is rational. Experimental research illustrate that, the roughness coefficient of plant reduces with the increasing of flow velocity. When the mean flow velocity is over 3m·s-1, Mannings n values vary between 0.025 and 0.035. This phenomenon is accord with the theoretic analysis. During the scouring process, not only the flow velocity, but also the flow duration has an obvious effect on the coarseness of vegetative bed.

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