A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn

2010 ◽  
Vol 41 (1) ◽  
pp. 107-109
Author(s):  
Arnaud Devriendt ◽  
Nash Damry ◽  
Michèle Hall ◽  
Maria Mesquita ◽  
Fred Avni
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Primary Hyperoxaluria ◽  
Polycystic Kidney ◽  
Primary Hyperoxaluria Type 1 ◽  
Autosomal Dominant Polycystic Kidney ◽  
Hyperoxaluria Type

scholarly journals Genetic Mutations in Autosomal Dominant Polycystic Kidney Disease Type-1

2019 ◽  
Vol 04 (01) ◽  
Author(s):  
Chandra Sanwal ◽  
Karim Nooruddin ◽  
Chirag Patel ◽  
Tiannan Zhang ◽  
Anita Bhagavathula ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Genetic Mutations ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1

2008 ◽  
Vol 2 (6) ◽  
pp. 435-437 ◽  
Author(s):  
Robert Elliott ◽  
David H. Harter
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Chromosomal Abnormalities ◽  
Disease Type ◽  
Clear Pattern ◽  
Polycystic Kidney ◽  
Cerebellar Peduncles ◽  
Autosomal Dominant Polycystic Kidney

Rhombencephalosynapsis (RES) is a rare congenital malformation of the cerebellum characterized by hypogenesis or agenesis of the vermis and fusion of the cerebellar hemispheres with or without fusion of the dentate nuclei and superior cerebellar peduncles. No genetic or chromosomal abnormalities have been identified for RES. Although the occurrence of RES is presumed to be sporadic, no clear pattern of inheritance has been identified. The authors report on a 17-year-old girl with autosomal dominant polycystic kidney disease Type 1 as well as RES.

scholarly journals Interrupted Aortic Arch in an Adult with Polycystic Kidney Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Ayşe Şeker Koçkara ◽  
Mansur Kayataş ◽  
Can Huzmeli ◽  
Ferhan Candan ◽  
Cesur Gümüş
Keyword(s):  
Kidney Disease ◽  
Aortic Arch ◽  
Polycystic Kidney Disease ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Interrupted Aortic Arch ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Extrarenal Complications ◽  
End Stage

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is responsible for 8–10% of patients with end-stage renal failure. The major extrarenal complications of ADPKD are cardiovascular abnormalities. Interrupted aortic arch (IAA) is a lethal congenital cardiac abnormality seen with a frequency of 3/1000000 births and is defined as a segment of the arcus aorta being atresic. In the literature, there are no any reports showing that polycystic kidney disease and interrupted aortic arch occur together. In this study, we present a rare case in which the patient has polycystic kidney disease and IAA together and discuss whether IAA is a complication of ADPKD.

On new hypotheses about autosomal dominant polycystic kidney disease type 1

2001 ◽  
Vol 57 (6) ◽  
pp. 754-758 ◽  
Author(s):  
E. Bersani ◽  
V. De Fonzo ◽  
F. Aluffi-Pentini ◽  
V. Parisi
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals A RARE CASE OF ACROMEGALY AND AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: CASE REPORT AND BRIEF REVIEW OF LITERATURE

2019 ◽  
Vol 5 (5) ◽  
pp. e302-e306
Author(s):  
Swayamsidha Mangaraj ◽  
Debasish Patro ◽  
Arun Kumar Choudhury ◽  
Anoj Kumar Baliarsinha
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Pituitary Adenomas ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Renal Cysts ◽  
Review Of Literature ◽  
Polycystic Kidney ◽  
Disease Case ◽  
Autosomal Dominant Polycystic Kidney

Objective: Acromegaly is a classic endocrine disorder caused by a growth hormone (GH)–secreting pituitary adenoma in an overwhelming majority of patients. The diagnosis may be delayed by several years due to the slow growing and insidious nature of the disease. Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by multiple renal cysts and various other systemic manifestations. The purpose of this article is to report a rare case of acromegaly with coexistent ADPKD. Methods: We report a case of 42-year-old female with acromegaly and ADPKD along with a brief review of literature. Results: The patient was referred to us for evaluation of progressive acral enlargement and coarsening of facial features. Endocrine evaluation confirmed the diagnosis of acromegaly due to an underlying GH–secreting pituitary macroadenoma. She was also found to have ADPKD. We discuss the clinical features and management of the patient. Conclusion: The association of pituitary adenomas and ADPKD is very rare and interesting. All affected individuals with pituitary adenomas and ADPKD in the literature are women. Furthermore, all reported pituitary adenomas in these individuals (including ours) are functional GH–secreting ones. These findings argue against a mere chance association between the two diseases.

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