A Rare Case of Tuberous Sclerosis with Autosomal Dominant Polycystic Kidney Disease with Renal Osteodystrophy

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.

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Tuberous sclerosis associated with autosomal dominant polycystic kidney disease: Case report about of the TSC2/PKD1 contiguous gene syndrome

Medicina (Ribeirao Preto Online) ◽

10.11606/issn.2176-7262.v49i6p583-586 ◽

2016 ◽

Vol 49 (6) ◽

pp. 583

Author(s):

Rodolfo M. Queiroz ◽

Michela P. Gomes ◽

Marcus V. N. Valentin ◽

Cecília H. Miyake ◽

Lucas G. Abud ◽

...

Keyword(s):

Case Report ◽

Kidney Disease ◽

Tuberous Sclerosis ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Contiguous Gene ◽

Disease Case ◽

Autosomal Dominant Polycystic Kidney

Relatamos o caso de mulher jovem portadora de doença renal crônica, com antecedentes de crises convulsivas, episódios de pneumotórax espontâneos e nefrectomia à esquerda. O estudo retrospectivo dos seus exames de imagem evidenciaram cistos hepáticos, renais e pulmonares; além de túberes corticais e nódulos subependimários no encéfalo. A avaliação anatomopatológica do rim removido cirurgicamente caracterizou doença policística renal do adulto. A revisão clínica em conjunto com esses exames revelou o diagnóstico de esclerose tuberosa e doença renal policística autossômica dominante, sugerindo síndrome do gene contíguo TSC2/PKD1

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

AACE Clinical Case Reports ◽

10.4158/accr-2019-0128 ◽

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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