Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

03 April 2019 : Case report  Canada

Monitoring Kidney Dysfunction in Kugelberg-Welander Syndrome

Challenging differential diagnosis, Rare coexistence of disease or pathology

Michael West1ABCDEF, Michelle M. Nash1AEF, Lindita Rapi1AEF, Adriana Krizova2BDE, G.V. Ramesh Prasad13ABCDEFG*

DOI: 10.12659/AJCR.914458

Am J Case Rep 2019; 20:441-446

Abstract

BACKGROUND: Kugelberg-Welander (K-W) syndrome is a type of spinal muscular atrophy that causes weakness of the hip-girdle muscles. If severe enough, this weakness can confine patients to a wheelchair in adult life. Proteinuria, a manifestation of kidney dysfunction, is associated with disorders of many organ systems. The evaluation of kidney function in the context of K-W syndrome is challenging.

CASE REPORT: A 45-year-old man with K-W syndrome first diagnosed at 5 years of age developed peripheral edema and was found to have proteinuria under 1 g/24 h. His past history was significant for hypertension for 7 years. He was managed conservatively initially, but over the next year the serum creatinine concentration increased from 18 to 32 µmol/L (0.2 to 0.36 mg/dL). A percutaneous kidney biopsy was performed in the fetal position due to an inability of the patient to lay prone or supine. Minimal change disease (MCD) was diagnosed. Treatment consisted of dietary salt restriction, ramipril, amiloride, and hydrochlorothiazide, while avoiding corticosteroids. The serum creatinine concentration initially returned to the 18–20 µmol/L (0.2–0.22 mg/dL) range with increased fluid intake, but then slowly declined to 6 µmol/L (0.07 mg/dL) over the next 14 years. Muscle strength remained poor.

CONCLUSIONS: K-W syndrome, when associated with proteinuria, presents novel diagnostic and therapeutic challenges to the latter. The serum creatinine concentration may be unhelpful in assessing kidney function in K-W syndrome. A conservative management approach to MCD is reasonable to minimize comorbidity.

Keywords: Creatinine, Motor Neuron Disease, Nephrosis, Lipoid, Spinal Muscular Atrophies of Childhood, Disease Management, Proteinuria

Add Comment 0 Comments

In Press

14 Mar 2024 : Case report  Latvia

Bilateral Low-Flow Type-D Dural Carotid-Cavernous Fistula: Diagnosis and Treatment with 3D Time-of-Flight M...

Am J Case Rep In Press; DOI: 10.12659/AJCR.942833  

0:00

31 Jan 2024 : Case report  China (mainland)

Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant

Am J Case Rep In Press; DOI: 10.12659/AJCR.943398  

31 Jan 2024 : Case report  Belgium

Unconjugated Hyperbilirubinemia in Acetaminophen-Related Acute Liver Failure

Am J Case Rep In Press; DOI: 10.12659/AJCR.942703  

31 Jan 2024 : Case report  China (mainland)

A 58-Year-Old Woman with Acute Torsion of the Small Bowel Due to Diffuse Intestinal Lipomatosis

Am J Case Rep In Press; DOI: 10.12659/AJCR.942527  

Most Viewed Current Articles

10 Jan 2022 : Case report  Germany

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

05 Mar 2022 : Case report  Brazil

Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...

DOI :10.12659/AJCR.935336

Am J Case Rep 2022; 23:e935336

02 Apr 2022 : Case report  Saudi Arabia

Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...

DOI :10.12659/AJCR.935743

Am J Case Rep 2022; 23:e935743

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923