Hypophysäres Inzidentalom bei Patientin mit autosomal dominanter polyzystischer Nierenerkrankung

Fajfr, R; Müller, Brigitte; Diem, Peter

doi:10.1024/0369-8394.91.25.1123

Cited by 3 publications

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“…To our knowledge, three previous cases of acromegaly associated with ADPKD have been reported (5, 6, 12). The first was published by Fajfr et al in 2002 (5).…”

Section: Discussionmentioning

confidence: 92%

“…Abdominal computed tomography (CT) disclosed innumerable bilateral kidney and liver cysts (Figure 1E, F), but renal and hepatic function was normal. Blood hormone levels were as follows: GH 106 ng/mL (normal <5.0); 60 minutes post glucose GH 90 ng/mL (normal<1.0), insulin-like growth factor-1 (IGF-1) 811 ng/mL (48–255); prolactin (PRL) 23.1 ng/mL (0–15); luteinizing hormone (LH) 0.1 mIU/mL (2–12); follicle-stimulating hormone (FSH) 1.7 mIU/mL (1–8); thyroid-stimulating hormone (TSH) 1.11 mIU/mL (0.5–6.0), free thyroxin (T4) 1.0 ng/dL (0.8–1.8), and cortisol 19 mcg/dL (5–25). A second transsphenoidal surgery was undertaken.…”

Section: Resultsmentioning

confidence: 99%

“…The first was published by Fajfr et al in 2002 (5). The patient, a 24-year-old woman with ADPKD undergoing an MRI study for aneurysm was found to have an incidental pituitary tumor.…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly, only GH-producing adenomas have been reported to occur in association with ADPKD; all four patients were females. Among the three previously reported cases, histology was only available in one (5). Our case is the first with a detailed morphologic investigation.…”

Section: Discussionmentioning

confidence: 99%

“…Acromegaly typically results from excessive secretion of growth hormone (GH) by a somatotrophic pituitary adenoma, usually sporadic in nature (3, 4). The association of ADPKD with pituitary adenoma is rare (5, 6). We report here a 39-year old woman with ADPKD and acromegaly.…”

Section: Introductionmentioning

confidence: 99%

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Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation

et al. 2011

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A 39-year-old woman with autosomal dominant polycystic kidney disease (ADPKD) presented with acromegaly and a pituitary macroadenoma. There was a family history of this renal disorder. She had undergone surgery for pituitary adenoma 6 years prior. Physical examination disclosed bitemporal hemianopsia and elevation of both basal growth hormone (GH) 106 ng/mL (normal 0–5) and insulin-like growth factor (IGF-1) 811 ng/mL (normal 48–255) blood levels. A magnetic resonance imaging scan disclosed a 3.0 cm sellar and suprasellar mass with both optic chiasm compression and left cavernous sinus invasion. Histologic, immunohistochemical and ultrastructural studies of the lesion disclosed a sparsely granulated somatotroph adenoma. Standard chromosome analysis on the blood sample showed no abnormality. Sequence analysis of the coding regions of PKD1 and PKD2 employing DNA from both peripheral leukocytes and the tumor revealed the most common PKD1 mutation, 5014_5015delAG. Analysis of the entire SSTR5 gene disclosed the variant c.143C>A (p.L48M, rs4988483) change in the heterozygous state in both blood and tumor, while no pathogenic mutations were noted in the MEN1, AIP, p27Kip1 and SSTR2 genes. To our knowledge, this is the fourth reported case of a GH-producing pituitary adenoma associated with ADPKD, but the first subject to extensive morphological, ultrastructural, cytogenetic and molecular studies. The question arises whether the physical proximity of the PKD1 and SSTR5 genes on chromosome 16 indicates a causal relationship between ADPKD and the somatotroph adenoma.

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“…To our knowledge, three previous cases of acromegaly associated with ADPKD have been reported (5, 6, 12). The first was published by Fajfr et al in 2002 (5).…”

Section: Discussionmentioning

confidence: 92%

Section: Resultsmentioning

confidence: 99%

“…The first was published by Fajfr et al in 2002 (5). The patient, a 24-year-old woman with ADPKD undergoing an MRI study for aneurysm was found to have an incidental pituitary tumor.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation

et al. 2011

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Acromegaly accompanied by diabetes mellitus and polycystic kidney disease

et al. 2021

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Acromegaly is characterized by autonomous excessive growth hormone (GH) secretion, generally due to GHproducing pituitary adenoma, and is associated with various systemic comorbidities including diabetes mellitus. Polycystic kidney disease (PKD) is characterized by the growth of numerous cysts in the kidneys that deteriorate renal function. While possible renal effects of excessive GH exposure have been a current issue in experimental medicine, only five cases of coexisting acromegaly and PKD have been reported previously, and little is known regarding the influence of acromegaly on renal disease. We treated a 50-year-old male with diabetes mellitus who showed a sudden and rapid decline of renal function along with increasing proteinuria, which led to diagnoses of PKD and acromegaly. His urinary protein levels were increased together with excessive GH secretion and worsening glycemic control. An increase of total kidney volume was also noted. Transsphenoidal surgery for the pituitary adenoma was successfully performed. Marked improvement of hyperglycemia and proteinuria were observed after the surgery, but renal function was unchanged. The patient's clinical course suggested common aspects of excessive GH secretion as an accelerating factor of the progression of diabetic nephropathy and PKD via direct and indirect pathways. Although coexisting acromegaly and PKD is clinically rare, vigilance for early diagnosis of acromegaly is appropriate in patients with diabetes and/or PKD, especially in those showing unexpected exacerbation of renal dysfunction.

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

Mangaraj

Patro

Choudhury

2019

AACE Clinical Case Reports

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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.

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Hypophysäres Inzidentalom bei Patientin mit autosomal dominanter polyzystischer Nierenerkrankung

Cited by 3 publications

References 0 publications

Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation

Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation

Acromegaly accompanied by diabetes mellitus and polycystic kidney disease

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

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