scholarly journals A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Oluwaseun Anyiam ◽  
Elizabeth Wallin ◽  
Felicity Kaplan ◽  
Christopher Lawrence
Keyword(s):  
Fanconi Syndrome ◽  
Multidisciplinary Approach ◽  
Elective Caesarean Section ◽  
Rare Condition ◽  
Renal Tubules ◽  
Renal Fanconi Syndrome ◽  
Healthy Baby ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular ◽  
Complicated Pregnancy

Renal Fanconi syndrome (RFS) is characterised by generalised dysfunction of the proximal renal tubules, resulting in excessive urinary loss of solutes, most notably bicarbonate, and type II (proximal) renal tubular acidosis. It is a rare condition, and literature around its management through pregnancy is limited. We present the management of a 37-year-old woman with RFS secondary to the HNF4A p.R63W mutation, through her third pregnancy. She presented at 28 + 5 weeks with dehydration, low serum bicarbonate, and profound metabolic acidosis. Daily infusions of sodium bicarbonate were necessary, and the requirements increased throughout the pregnancy. She also demonstrated both fasting hypoglycaemia and episodes of postprandial hyperglycaemia which required complex management. Due to concerns around fetal health, an elective caesarean section was performed at 34 weeks, delivering a healthy baby girl. This case highlights the potential complexity of pregnancy in patients with RFS and the need for a multidisciplinary approach to its management.

DISEASES OF THE RENAL TUBULES IN CHILDHOOD

PEDIATRICS ◽  
1957 ◽  
Vol 20 (2) ◽  
pp. 337-357
Author(s):  
Carolyn F. Piel
Keyword(s):  
Fanconi Syndrome ◽  
Storage Disease ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Tubules ◽  
Hyperchloremic Acidosis ◽  
Renal Glycosuria ◽  
Vitamin D Resistant Rickets ◽  
Renal Tubular ◽  
Resistant Rickets

As indicated in the preceding sections of this review, it seems evident that renal diabetes insipidus, renal glycosuria, "cystinuria" and renal hyperchloremic acidosis are unquestionably renal tubular diseases. Vitamin D resistant rickets has tentatively been placed in the same category although it is recognized that the evidence for this classification is not yet thoroughly convincing. All of the findings of the Fanconi syndrome seem actually to represent a summation of the single tubular diseases, except "cystinosis." Known renal tubular dysfunction fails to explain the cystine-storage disease, cystinosis.

scholarly journals Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats

2015 ◽  
Vol 43 (03) ◽  
pp. 188-192 ◽  
Author(s):  
E. Furman ◽  
J. Leidinger ◽  
D. Brandstetter ◽  
C. Hochleithner ◽  
A. C. Sewell ◽  
...  
Keyword(s):  
North America ◽  
Fanconi Syndrome ◽  
Clinical Signs ◽  
Metabolic Abnormalities ◽  
Renal Fanconi Syndrome ◽  
First Report ◽  
History Of ◽  
Renal Tubular

SummaryTransient Fanconi syndrome without azotemia was diagnosed in a dog and was associated with ingestion of Chinese chicken jerky treats. Fanconi syndrome is a proximal renal tubular defect and a diagnosis was made based upon severe glucosuria with normoglycemia, and severe generalized aminoaciduria. The clinical signs of polyuria and polydipsia as well as the massive urinary metabolic abnormalities resolved after jerky treat withdrawal. While frequently seen in North America and Australia, this is the first report of jerky treat induced Fanconi syndrome in continental Europe. Clinicians should be aware of this potential intoxication and be vigilant for a history of jerky treat consumption in a dog with glucosuria.

Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report

2017 ◽  
Vol 70 (5) ◽  
pp. 729-731 ◽  
Author(s):  
Dana Perrone ◽  
Faraz Afridi ◽  
Kelli King-Morris ◽  
Ashwini Komarla ◽  
Pran Kar
Keyword(s):  
Case Report ◽  
Renal Tubular Acidosis ◽  
Fanconi Syndrome ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

scholarly journals Proximal renal tubular acidosis with primary Fanconi syndrome

2018 ◽  
Vol 5 (3) ◽  
pp. 1131
Author(s):  
Prijo Philip ◽  
Chinthu Sara Jacob
Keyword(s):  
Renal Tubular Acidosis ◽  
Fanconi Syndrome ◽  
Continuous Administration ◽  
Tubular Transport ◽  
Develop Type ◽  
Proximal Tubular ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular ◽  
Normal Glomerular Filtration Rate

Renal tubular acidosis (RTA) is associated with normal or near normal glomerular filtration rate. Proximal RTA is associated with impaired bicarbonate reabsorption. This is manifested as bicarbonate wastage in the urine, and this reflects the defect in proximal tubular transport. Osteopenia or full-blown rickets may develop. Type 2 RTA is rare and occurs in association with conditions such as Fanconi syndrome. This is manifested as glycosuria, aminoaciduria, phosphate wasting and mild proteinuria. The basis of therapy is the continuous administration of appropriate amounts of alkali in the form of either bicarbonate or citrate, as well as the treatment of the cause.

scholarly journals A Report of a Large Axillary Cystic Hygroma (a.k.a Lymphangioma) in a Newborn from a Tertiary Hospital in Northern Tanzania

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Jay Lodhia ◽  
Rune Philemon ◽  
Patrick Amsi ◽  
Kondo Chilonga ◽  
David Msuya
Keyword(s):  
Multidisciplinary Approach ◽  
Lymphatic System ◽  
Rare Condition ◽  
Tertiary Hospital ◽  
Cystic Hygroma ◽  
Healthy Baby ◽  
Case Presentation ◽  
Northern Tanzania ◽  
Axillary Mass ◽  
Female Baby

Introduction. Cystic hygroma is a rare condition of the lymphatic system that occurs mainly in children. They are found around the neck, axilla, inguinal, or thoracic regions. Case Presentation. A newborn female baby with a right-sided axillary mass since birth was admitted to our center. She was otherwise a healthy baby with noncontributory prenatal history. The mass was 12 cm in diameter and cystic. Wide excision of the mass was done, and histology confirmed cystic hygroma. Postoperatively, the baby did well clinically and was discharged. Conclusion. Due to its rare incidence, reports and literature on management of cystic hygroma are few. A multidisciplinary approach is vital to yield the best prognosis for this rare condition.

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