A Rare Case of Acromegaly and Autosomal Dominant Polycystic Kidney Disease: Case Report and Brief Review of Literature

Abstract

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. (AACE Clinical Case Rep. 2019;5:e302-e306) Abbreviations: ADPKD = autosomal dominant polycystic kidney disease; GH = growth hormone; IGF-1 = insulin-like growth factor 1 DISCLOSUREThe authors have no multiplicity of interest to disclose.

Acromegaly accompanied by diabetes mellitus and polycystic kidney disease

“…In the present case, the patient showed relatively early development of albuminuria and rapid progression of overt proteinuria and renal impairment, which was partly improved by surgical resection of the GH-producing pituitary adenoma. To our knowledge, the first case report of acromegaly associated with ADPKD was reported in 2002 [8]; four other cases have since been reported [9][10][11][12] and all of the affected individuals were female ( Table 2). The present case shows that this combination of diseases can also occur in males.…”

“…Although a few cases of coexisting acromegaly and ADPKD have been reported [8][9][10][11][12], little is known of the influence of acromegaly on the severity and progression of PKD, especially in cases that also have diabetic nephropathy. We report here a rare case of acromegaly accompanied by both diabetes mellitus and PKD that presented with a rapid decrease of renal function and an increase of total kidney volume.…”

Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome

“…Asymmetric fusion of posterior elements results in the formation of unilateral bars, 1 fusion of pedicles in the midline has also been described, 22 as cervical instability. 23 24 (2) Synostosis of the tarsal and carpal bones, more frequently between the capitate and hamate, and between the lunate and the triquetrum. (3) Delayed ossification of the epiphyses and delayed bone age.…”