Renal ultrasound in the neonatal period

1982 ◽  
Vol 12 (1) ◽  
pp. 15-20 ◽  
Author(s):  
A. N. McInnis ◽  
A. H. Felman ◽  
J. V. Kaude ◽  
R. D. Walker
Keyword(s):  
Neonatal Period ◽  
Renal Ultrasound

scholarly journals Pseudohypoaldosteronism type 1: clinical features and management in infancy

2013 ◽  
Vol 2013 ◽  
Author(s):  
N Amin ◽  
N S Alvi ◽  
J H Barth ◽  
H P Field ◽  
E Finlay ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Genetic Testing ◽  
Neonatal Period ◽  
Case Series ◽  
Electrolyte Imbalance ◽  
Sweat Test ◽  
Renal Ultrasound ◽  
List Type ◽  
Tract Infections

Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels. The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively. A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing. Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age. Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy. In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66 000 and 1:166 000 respectively.

Childhood diaphragmatic hernias presenting after the neonatal period

1988 ◽  
Vol 39 (2) ◽  
pp. 237-244 ◽  
Author(s):  
L BERMAN ◽  
D STRINGER ◽  
S EIN ◽  
B SHANDLING
Keyword(s):  
Neonatal Period ◽  
Diaphragmatic Hernias

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Renal ultrasound screening for renal congenital abnormalities at newborns, in Arad maternity

2008 ◽  
Vol 29 (S 1) ◽  
Author(s):  
D Burdan ◽  
D Teodorescu ◽  
A Marta ◽  
M Satmarean ◽  
E Gomoi ◽  
...  
Keyword(s):  
Congenital Abnormalities ◽  
Renal Ultrasound ◽  
Ultrasound Screening

FEMALE ENDOCRINE CONTROL MECHANISMS DURING THE NEONATAL PERIOD

1972 ◽  
Vol 70 (2) ◽  
pp. 396-408 ◽  
Author(s):  
K.-D. Schulz ◽  
H. Haarmann ◽  
A. Harland
Keyword(s):  
Protein Synthesis ◽  
Reproductive System ◽  
Rna Synthesis ◽  
Neonatal Period ◽  
High Dose ◽  
Female Reproductive System ◽  
Endocrine Control ◽  
Hypothalamic Region ◽  
Rna And Protein Synthesis ◽  
Physiological Dose

ABSTRACT The present investigation deals with the oestrogen-sensitivity of the female reproductive system during the neonatal period. Newborn female guinea pigs were used as test animals. At different times after a single subcutaneous injection of a physiological dose of 0.1 μg or an unphysiologically high dose of 10 μg 17β-oestradiol/100 g body weight, the RNA- and protein-synthesis was examined in the hypothalamic region, pituitary, cerebral cortex, liver, adrenal gland, ovary and uterus. With a physiological dose an increase in organ weight, protein content, RNA-and protein-synthesis was found only in the uterus. These alterations turned out to be dose-dependent. In addition to the findings in the uterus an inhibition of the aminoacid incorporation rate occurred in the liver following the injection of the high oestradiol dose. As early as 1 hour after the administration of 0.1 μg 17β-oestradiol an almost 100% increase in uterine protein synthesis was detectable. This result demonstrates a high oestrogen-sensitivity of this organ during the neonatal period. All the other organs of the female reproductive system such as the hypothalamus, pituitary and ovary did not show any oestrogen response. Therefore the functional immaturity of the uterus during post partem life is not the result of a deficient hormone sensitivity but is correlated with the absence of a sufficient hormonal stimulus at this time. The investigation on the effects of actinomycin resulted in different reactions in the uterus and liver. In contrast to the liver a paradoxical actinomycin effect was found in the uterus after treatment with actinomycin alone. This effect is characterized by a small inhibition of RNA-synthesis and a 50% increase in protein synthesis. The treatment of the newborn test animals with actinomycin and 17β-oestradiol together abolished the oestrogen-induced stimulation of the uterine RNA-and protein-synthesis. Consequently, the effect of oestrogens during the neonatal period is also connected with the formation of new proteins via an increased DNA-directed RNA-synthesis.

Type B Interrupted Aorta in an Adult Patient

2014 ◽  
Vol 17 (2) ◽  
pp. 80
Author(s):  
Ahmet Ozkara ◽  
Mehmet Ezelsoy ◽  
Levent Onat ◽  
Ilhan Sanisoglu
Keyword(s):  
Cardiopulmonary Bypass ◽  
Aortic Arch ◽  
Collateral Circulation ◽  
Neonatal Period ◽  
Interrupted Aortic Arch ◽  
Complete Loss ◽  
Posterolateral Thoracotomy ◽  
Type B ◽  
Case Presentation ◽  
Descending Aorta

<p><b>Introduction:</b> Interrupted aortic arch is a rare congenital malformation characterized by a complete loss of luminal continuity between the ascending and descending aorta. It is often diagnosed during the neonatal period.</p><p><b>Case presentation:</b> We presented a 51-year-old male patient with interrupted aortic arch type B who was treated successfully with posterolateral thoracotomy without using cardiopulmonary bypass.</p><p><b>Conclusion:</b> The prognosis for interrupted aortic arch depends on the associated congenital anomalies, but the outcome is usually very poor unless there is surgical treatment. Survival into adulthood depends on the development of collateral circulation.</p>

THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION)

2019 ◽  
Vol 23 (2) ◽  
pp. 100-108
Author(s):  
S. V. Papizh ◽  
O. R. Piruzieva
Keyword(s):  
Sanger Sequencing ◽  
Clinical Observation ◽  
Liver Enzymes ◽  
Renal Ultrasound ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Renal Hypoplasia ◽  
Unilateral Renal Agenesis ◽  
Elevated Liver Enzymes ◽  
Medullary Nephrocalcinosis

Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a rare autosomal dominant disease caused by various mutations in the HNF1β gene coding the hepatocyte nuclear factor 1β. HNF1β is a transcription factor that is critical for the development of kidney urogenital tract, pancreas, liver, brain, and parathyroid gland. Renal phenotype or HNF1β- nephropathy appeared to be extremely heterogenic: multicystic renal dysplasia, renal hypoplasia, unilateral renal agenesis, horseshoe kidney, atypical familial juvenile hyperuricemic nephropathy, urinary tract malformations and tubular dysfunction. Extrarenal phenotype of HNF1β-associated disease could be maturity-onset diabetes of the young (MODY), pancreatic atrophy and exocrine pancreatic dysfunction, elevated liver enzymes, neonatal cholestasis, congenital abnormalities of the genital tract, hyperparathyroidism, neurological symptoms. The multisystem phenotype makes clinical verification of the diagnosis extremely difficult. In this article, we present a clinical observation of a child with HNF1β – associated disease. The first clinical presentation of HNF1β-associated disease was ultrasound changes in the kidneys (hyperechogenic kidneys?), which were detected by prenatal ultrasonography in pregnancy. Renal ultrasound revealed polycystic kidney disease in the first days of life and bilateral medullary nephrocalcinosis by the age of three. The clinical examination showed a reduced renal function and developed Fanconi syndrome (glycosuria, low molecular proteinuria, hypophosphatemia, aminoaciduria, hyperuricosuria) in the first year of life. Also the child had a non-constant asymptomatic elevation of liver enzymes, hyperparathyroidism, osteoporosis. The diagnosis was confirmed by the results of next generation sequencing which revealed novel heterozygous mutation in exon 4 of the HNF1b gene (chr17: 36091813C>T), p.Cys273Tyr (c.818G>A). The identified mutation was validated by Sanger sequencing. Validation by Sanger sequencing did not reveal a chr17: 36091813C>T mutation in parents, which suggested the appearance of a mutation in the child de novo.

FEATURES OF CARDIORESPIRATORY ADAPTATION OF LATER PRETERM INFANTS IN THE EARLY NEONATAL PERIOD

2018 ◽  
Vol 14 (66) ◽  
pp. 100
Author(s):  
G. A. Solovyova ◽  
V. I. Pokhilko ◽  
S. N. Tsvirenko ◽  
N. I. Gasyuk ◽  
Yu. Yu. Klimchuk
Keyword(s):  
Preterm Infants ◽  
Neonatal Period ◽  
Early Neonatal Period

Noninvasive monitoring of blood gases in the neonatal period

1988 ◽  
Vol 48 ◽  
pp. 33-36
Author(s):  
R. Lindemann ◽  
P. Hågå ◽  
A. G. Bechensteen ◽  
K. Lossius ◽  
A. Langslet
Keyword(s):  
Neonatal Period ◽  
Blood Gases ◽  
Noninvasive Monitoring
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