Novel Variant in CLDN16: A Further Step in the Diagnosis of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis—A Case Report
| Autor: | Karen Stern, Tim Shimon, Filippo Vairo, Gopal Narang, Megan M. Hager, Mira A Keddis, Jonathan Moore, Mitchell R. Humphreys |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty endocrine system business.industry 030232 urology & nephrology medicine.disease urologic and male genital diseases Gastroenterology Diseases of the genitourinary system. Urology Hypomagnesemia Progressive renal failure 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Tubulopathy Internal medicine nephrocalcinosis Medicine FHHNC Hypercalciuria CLDN16 RC870-923 Nephrocalcinosis business nephrolithiasis |
| Zdroj: | Uro, Vol 1, Iss 11, Pp 76-81 (2021) |
| ISSN: | 2673-4397 |
| Popis: | Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubulopathy characterized by renal loss of calcium and magnesium leading to progressive renal failure. The disorder is caused by variants to the tight junction proteins claudin-16 and -19. While rare, this disorder causes a significant burden to patients based on its clinical manifestations of various electrolyte abnormalities, nephrocalcinosis, and early progression to renal failure. In this report we describe the diagnosis of a novel variant of CLDN16 which clinically presented with severe hypomagnesemia, hypocalcemia, nephrocalcinosis, and renal failure. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|