Association of Congenital Deafness With Goitre the Nature of the Thyroid Defect

Morgans, M.E.; Trotter, Wilfred

doi:10.1016/s0140-6736(58)90866-3

Cited by 163 publications

(68 citation statements)

References 6 publications

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“…All the subjects in the present study had avid goitres. They did not manifest a peroxidase defect as in Pendred's syndrome (Morgans and Trotter 1958). The absence of iodotyrosines in the blood and urine and the normal ratio of B.E.131I to n.B.131I indicate that some at least of the known metabolic defects of sporadic goitrous cretinism are unlikely to be present in our endemic deafmutes.…”

mentioning

confidence: 72%

"Bound" Complement in the Skin of Patients With Chronic Discoid Lupus Erythematosus and Systemic Lupus Erythematosus

Kalsbeek

Cormane

1964

The Lancet

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mentioning

confidence: 72%

"Bound" Complement in the Skin of Patients With Chronic Discoid Lupus Erythematosus and Systemic Lupus Erythematosus

Kalsbeek

Cormane

1964

The Lancet

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“…Therefore, mutations in SLC26A4 involve various organs to differing degrees. Vaughan Pendred described this disorder as the combination of deafness and goiter (87,88). Remarkably, both patients with Pendred syndrome, which is inherited in an autosomal recessive pattern, and pendrin-null mice have normal kidney function under baseline conditions (82,89).…”

Section: Type B Intercalated Cells and Their Transport Processesmentioning

confidence: 99%

Collecting Duct Intercalated Cell Function and Regulation

Roy¹,

Al‐bataineh²,

Pastor-Soler

2015

Clinical Journal of the American Society of Nephrology

211

213

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Intercalated cells are kidney tubule epithelial cells with important roles in the regulation of acid-base homeostasis. However, in recent years the understanding of the function of the intercalated cell has become greatly enhanced and has shaped a new model for how the distal segments of the kidney tubule integrate salt and water reabsorption, potassium homeostasis, and acid-base status. These cells appear in the late distal convoluted tubule or in the connecting segment, depending on the species. They are most abundant in the collecting duct, where they can be detected all the way from the cortex to the initial part of the inner medulla. Intercalated cells are interspersed among the more numerous segment-specific principal cells. There are three types of intercalated cells, each having distinct structures and expressing different ensembles of transport proteins that translate into very different functions in the processing of the urine. This review includes recent findings on how intercalated cells regulate their intracellular milieu and contribute to acid-base regulation and sodium, chloride, and potassium homeostasis, thus highlighting their potential role as targets for the treatment of hypertension. Their novel regulation by paracrine signals in the collecting duct is also discussed. Finally, this article addresses their role as part of the innate immune system of the kidney tubule.

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“…Subsequent reports on families with Pendred's syndrome, many of them highly inbred, suggested an autosomal recessive mode of inheritance (4,5). As first demonstrated by Morgans and Trotter in 1958, the administration of perchlorate to these patients results in a partial discharge of radiolabeled iodide from the thyroid, indicating an impaired organification of this trace element into thyroglobulin (6). However, despite these thyroid abnormalities, most Pendred patients are euthyroid, excluding hypothyroidism as a cause of the deafness.…”

mentioning

confidence: 76%