Work

Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation

Year: 2025

Type: article

Abstract: ABSTRACT Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the CLDN16 and CLDN19 genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract infections, and renal dysfunction. We herein report a 22‐year‐old male born to consanguineous parents presenting with recurrent nephrolithiasis since early childhood. He gave a previous history of muscle cramps, tetany, and seizures on multiple occasions with reported hypocalcemia and hypomagnesemia. He had no ocular symptoms or any history of salt wasting. His family history is noncontributory. Laboratory parameters demonstrated persistent hypomagnesemia, hypercalciuria, secondary hyperparathyroidism, and mild renal impairment. Ultrasound and plain X‐ray kidney–ureter–bladder (KUB) region illustrated bilateral nephrolithiasis and nephrocalcinosis. Genetic study identified a homozygous missense mutation in CLDN16 which correlates with the patient's clinical features. Mild renal dysfunction indicates that this patient may retain partial CLDN16 function. Treatment focused on high fluid intake with dietary changes along with potassium citrate and magnesium supplementation. FHHNC may go unnoticed during the evaluation of recurrent renal stones. Hence, this case report highlights the need for careful assessment of patients presenting with recurrent nephrolithiasis manifesting from an early age. Early distinction of the disease from other inherited tubulopathies may decelerate the progression of end‐stage renal disease (ESRD) in FHHNC patients.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71530

Authors: Abdullah Al Noman Bhuiyan, Nazia Akter, Tahniyah Haq, Md. Fariduddin, Shahjada Selim

Institution: Bangladesh Medical University

Language: English

Topic: Magnesium in Health and Disease

Subfield: Nutrition and Dietetics

Field: Nursing

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820